Genomes and Genes
hereditary spastic paraplegia
Summary: A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
Publications236 found, 100 shown here
- Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegiaHiroshi Iwanaga
First Department of Internal Medicine, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto, Nagasaki, Japan
Am J Med Genet A 133:13-7. 2005b>Hereditary spastic paraplegia (HSP) due to mutations in the spastin gene (SPG4) located to 2p22-p21 is the most common form of autosomal dominant (AD) HSP...
- Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubulesXinnan Wang
Department of Genetics, University of Cambridge, Downing Street, Cambridge, CB2 3EH, UK
Nat Neurosci 10:177-85. 2007To understand the functions of NIPA1, mutated in the neurodegenerative disease hereditary spastic paraplegia, and of ichthyin, mutated in autosomal recessive congenital ichthyosis, we have studied their Drosophila melanogaster ortholog, ..
- REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31Christian Beetz
Institute for Clinical Chemistry and Laboratory Diagnostics, University Hospital Jena, Germany
Brain 131:1078-86. 2008..expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia (HSP) type SPG31...
- A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)Evan Reid
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, United Kingdom
Am J Hum Genet 71:1189-94. 2002..missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia. The mutation occurs in the family in which the SPG10 locus was originally identified, at an invariant ..
- Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER networkSeong H Park
Cellular Neurology Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke NINDS, NIH, Bethesda, Maryland 20892 3738, USA
J Clin Invest 120:1097-110. 2010..Thus, defects in tubular ER shaping and network interactions with the microtubule cytoskeleton seem to be the predominant pathogenic mechanism of HSP...
- A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegiaMikołaj Słabicki
Max Planck Institute for Molecular Cell Biology and Genetics, Dresden, Germany
PLoS Biol 8:e1000408. 2010..gene KIAA0415 encodes a putative helicase that interacts with SPG11 and SPG15, two proteins mutated in hereditary spastic paraplegia (HSP)...
- Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severingKatia J Evans
Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
J Cell Biol 168:599-606. 2005..in the AAA adenosine triphosphatase (ATPase) Spastin (SPG4) cause an autosomal dominant form of hereditary spastic paraplegia, which is a retrograde axonopathy primarily characterized pathologically by the degeneration of long ..
- Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patientsPaul R Kasher
Academic Neurology Unit, School of Medicine and Biomedical Sciences, University of Sheffield, Sheffield, UK
J Neurochem 110:34-44. 2009Mutations in spastin are the most common cause of hereditary spastic paraplegia (HSP) but the mechanisms by which mutant spastin induces disease are not clear...
- Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegiaPaul N Valdmanis
Hopital Notre Dame CHUM, Montreal, Quebec, H2L 4M1, Canada
Am J Hum Genet 80:152-61. 2007b>Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. The eighth HSP locus, SPG8, is on chromosome 8p24.13...
- Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegiaLuigia Atorino
Human Molecular Genetics Unit, DIBIT San Raffaele Scientific Institute, 20132 Milan, Italy
J Cell Biol 163:777-87. 2003..a putative mitochondrial metallopeptidase of the AAA family, cause an autosomal recessive form of hereditary spastic paraplegia (HSP)...
- Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamicsAlessia Errico
Telethon Institute of Genetics and Medicine TIGEM, II University of Naples, Naples, Italy
Hum Mol Genet 11:153-63. 2002b>Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the lower limbs, caused by the specific degeneration of the corticospinal tracts, the longest axons in humans...
- The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signallingHilda T H Tsang
Cambridge Institute for Medical Research, Addenbrooke s Hospital, UK
Hum Mol Genet 18:3805-21. 2009....
- Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastinAntonina Roll-Mecak
Howard Hughes Medical Institute and Department of Cellular and Molecular Pharmacology, University of California, San Francisco, 600 16th Street, San Francisco, California 94158, USA
Nature 451:363-7. 2008..Our work also provides insights into the structural defects in spastin that arise from mutations identified in hereditary spastic paraplegia patients.
- Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60Jens Jacob Hansen
Research Unit for Molecular Medicine, Arhus University Hospital and Faculty of Health Sciences, Arhus, Denmark
Am J Hum Genet 70:1328-32. 2002SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French family...
- Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegiaJoanna M Solowska
Department of Neurobiology and Anatomy, Drexel University College of Medicine, 2900 Queen Lane, Philadelphia, PA 19129, USA
Hum Mol Genet 19:2767-79. 2010The spectrum of mutations (missense, non-sense and splice-site) associated with hereditary spastic paraplegia 4 (HSP-SPG4) (SPG4:OMIM#182601) has suggested that this autosomal dominant disease results from loss of function...
- Hereditary spastic paraplegia: clinical features and pathogenetic mechanismsSara Salinas
Neuropathobiology Laboratory, Cancer Research UK, London, UK
Lancet Neurol 7:1127-38. 2008b>Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic neurodegenerative disorders in which the most severely affected neurons are those of the spinal cord...
- Hereditary spastic paraplegia associated with dopa-responsive parkinsonismFederico Micheli
Parkinson s Disease and Movement Disorders Unit, Hospital de Clinicas Jose de San Martin, Buenos Aires, Argentina
Mov Disord 21:716-7. 2006A 47-year-old patient with hereditary spastic paraplegia and parkinsonian features is reported. Treatment with levodopa led to marked improvement in his neurological status and quality of life...
- The extent of axonal loss in the long tracts in hereditary spastic paraplegiaG C DeLuca
Departments of Clinical Neurology, University of Oxford, Oxford, UK
Neuropathol Appl Neurobiol 30:576-84. 2004b>Hereditary spastic paraplegia (HSP) comprises a group of inherited neurodegenerative disorders with the shared characteristics of progressive weakness and spasticity predominantly affecting the lower limbs...
- Levodopa-responsive parkinsonism in hereditary spastic paraplegia with thin corpus callosumSuk Y Kang
Department of Neurology and Brain Research, Yonsei University College of Medicine, Seoul, South Korea
Parkinsonism Relat Disord 10:425-7. 2004b>Hereditary spastic paraplegia with thin corpus callosum is a rare degenerative disease, which is characterized by a progressive weakness of the lower limbs with a hypoplastic corpus callosum, and is often associated with other symptoms ..
- Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP)K Seidel
Institute of Clinical Neuroanatomy, Dr Senckenberg Anatomy, Goethe University, D 60590 Frankfurt Main, Germany
Ann Anat 191:203-11. 2009..In view of their known functional role, damage to these central nervous gray and white matter components offers explanations for the patient's pyramidal signs, her cerebellar, psychiatric and neuropsychological disease symptoms...
- Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegiaFang Du
Department of Biology and Institute for Genome Sciences and Policy, Duke University, Durham, NC 27708, USA
Hum Mol Genet 19:1883-96. 2010Mutations in spastin are the most frequent cause of the neurodegenerative disease autosomal dominant-hereditary spastic paraplegia (AD-HSP)...
- Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35)Katherine J Dick
Medical Genetics, Clinical Developmental Sciences, St George s University of London, London, UK
Hum Mutat 31:E1251-60. 2010b>Hereditary spastic paraplegia (HSP) describes a heterogeneous group of inherited neurodegenerative disorders in which the cardinal pathological feature is upper motor neurone degeneration leading to progressive spasticity and weakness of ..
- Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseasesChristoph S Clemen
Institute of Biochemistry I, University of Cologne, Joseph Stelzmann Street 52, Cologne, Germany
Brain 133:2920-41. 2010..Strumpellin mutations have been shown to cause hereditary spastic paraplegia. We demonstrate that strumpellin is a ubiquitously expressed protein present in cytosolic and ..
- Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegiaR Schule
Department of Neurology, University of Tubingen, Tubingen, Germany
J Neurol Neurosurg Psychiatry 80:1402-4. 2009..Clinically, both are characterised by complicated HSP and a rather similar phenotype consisting of early onset spastic paraplegia, cognitive deficits, thin corpus callosum (TCC), peripheral neuropathy and mild cerebellar ataxia...
- Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegiaJ Hazan
Genoscope, Evry, France
Nat Genet 23:296-303. 1999Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterized by progressive spasticity of the lower limbs...
- Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10Cyril Goizet
INSERM, UMR_S679, Paris, France
Hum Mutat 30:E376-85. 2009..SPG10 mutations were found in 10% of our complicated forms of HSP, suggesting that mutations in KIF5A represent the major cause of complicated AD-HSP in France...
- Is the transportation highway the right road for hereditary spastic paraplegia?Andrew H Crosby
Am J Hum Genet 71:1009-16. 2002The term "hereditary spastic paraplegia" (HSP) refers to a genetically and clinically diverse group of disorders whose primary feature is progressive spasticity of the lower extremities...
- Spartin activates atrophin-1-interacting protein 4 (AIP4) E3 ubiquitin ligase and promotes ubiquitination of adipophilin on lipid dropletsChristopher Hooper
Department of Molecular Pharmacology and Therapeutics, Loyola Chicago University, Maywood, IL, USA
BMC Biol 8:72. 2010..receptor and turnover of lipid droplets and a lack of expression of this protein is responsible for hereditary spastic paraplegia type 20 (SPG20)...
- Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 geneCharalampos Tzoulis
Dept of Neurology, Haukeland University Hospital, 5021, Bergen, Norway
J Neurol 255:1142-4. 2008..1047insC, in a non-consanguineous Norwegian family with ARHSP. This is the first description of this disorder in the Norwegian population and, apart from mild ptosis in two siblings, the phenotype was essentially pure and late in onset...
- The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and functionNick Trotta
Department of Biological Sciences, Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37235, USA
Curr Biol 14:1135-47. 2004b>Hereditary Spastic Paraplegia (HSP) is a devastating neurological disease causing spastic weakness of the lower extremities and eventual axonal degeneration...
- Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22?Timothy P Bohan
Arch Neurol 61:1470-1; author reply 1471. 2004
- Autosomal dominant hereditary spastic paraplegia: novel mutations in the REEP1 gene (SPG31)Katharina J Schlang
Department of Human Genetics, Ruhr University, 44801 Bochum, Germany
BMC Med Genet 9:71. 2008..and in the SPG3A gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP)...
- A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutationT Warnecke
Department of Neurology, University Hospital of Munster, Munster, Germany
Neurology 69:368-75. 2007b>Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by progressive spastic paraparesis of the lower limbs.
- Normal dopaminergic nigrostriatal innervation in SPG3A hereditary spastic paraplegiaRoger L Albin
Geriatrics Research, Education, and Clinical Center, Ann Arbor VAHS, Ann Arbor, Michigan 48109 2200, USA
J Neurogenet 22:289-94. 2008SPG3A/atlastin-1 gene mutations cause an autosomal dominant form of hereditary spastic paraplegia (SPG3A-HSP)...
- Machado-Joseph disease versus hereditary spastic paraplegia: case reportH A Teive
Division of Neurology, Hospital de Clinicas, Federal University of Parana, Curitiba, PR, Brazil
Arq Neuropsiquiatr 59:809-11. 2001..We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that ..
- Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matterSatoshi Kuru
Department of Neurology, Suzuka National Hospital, Kasado, Suzuka shi, Mie, Japan
Neuropathology 25:346-52. 2005We report an autopsy case of a 51-year-old man clinically diagnosed with a complicated type of hereditary spastic paraplegia. His sister showed similar manifestations. Gait disturbance was manifested at 14 years of age...
- Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloproteaseG Casari
Telethon Institute of Genetics and Medicine, Milan, Italy
Cell 93:973-83. 1998b>Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. We found that patients from a chromosome 16q24...
- Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegiaD V K Pantakani
Institute of Human Genetics, University of Goettingen, Goettingen, Germany
Clin Genet 73:268-72. 2008The SPG4 gene is frequently mutated in autosomal dominant form of hereditary spastic paraplegia (HSP). We report that the compound heterozygous sequence variants S44L, a known polymorphism, and c...
- Primary lateral sclerosis, hereditary spastic paraplegia, and mutations in the alsin gene: historical background for the first International ConferenceLewis P Rowland
Eleanor and Lou Gehrig MDA ALS Center, Neurological Institute, Columbia University Medical Center, New York, NY 10032, USA
Amyotroph Lateral Scler Other Motor Neuron Disord 6:67-76. 2005
- Hereditary spastic paraplegia: the pace quickensJohn K Fink
Ann Neurol 51:669-72. 2002
- Gait analysis of sporadic and hereditary spastic paraplegiaS Klebe
Neurologische Klinik, Christian Albrechts Universitat, Niemannsweg 147, 24105, Kiel, Germany
J Neurol 251:571-8. 2004..Spastic paraparesis is the major and most disabling clinical symptom and was assessed with gait analysis using a three-dimensional infrared movement analysis system...
- The role of ZFYVE27/protrudin in hereditary spastic paraplegiaMonica Martignoni
Am J Hum Genet 83:127-8; author reply 128-30. 2008
- A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegiaJakob Hansen
Research Unit for Molecular Medicine, Faculty of Health Sciences Aarhus University Hospital, Skejby Sygehus, Brendstrupgaardsvej, 8200, Aarhus N, Denmark
J Neurol 254:897-900. 2007..In the present work we have investigated 23 Danish index patients with hereditary spastic paraplegia (HSP) for mutations in the HSPD1 gene. One patient was found to be heterozygous for a c...
- A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegiaMasaru Matsui
J Neurol 254:972-4. 2007
- Functional assessment of lower extremities in hereditary spastic paraplegiaMark Braschinsky
Tartu University, Department of Neurology, 8 L Puusepp St, Tartu, 51014, Estonia
Arch Phys Med Rehabil 90:1887-90. 2009To characterize the spasticity and range of motion (ROM) in patients with hereditary spastic paraplegia (HSP) and to correlate these parameters with walking speed.
- Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegiaP Hedera
Department of Neurology, The University of Michigan, Rm 5214 CCGCB, 1500 E Medical Center Drive, Ann Arbor, MI 48109 0940, USA
Neuroradiology 47:730-4. 2005b>Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders characterized by progressive lower extremity weakness and spasticity...
- MR imaging findings in autosomal recessive hereditary spastic paraplegiaR Hourani
Department of Diagnostic Radiology, American University of Beirut Medical Center, Beirut, Lebanon
AJNR Am J Neuroradiol 30:936-40. 2009b>Hereditary spastic paraplegia (HSP) is a disorder characterized by degeneration of the corticospinal tracts and posterior column of the spinal cord...
- The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtypeH Patel
Medical Genetics, St George s Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, United Kingdom
Am J Hum Genet 69:209-15. 2001..SS in a second family was not linked to SPG17, demonstrating further genetic heterogeneity in HSP, even within this clinically distinct subtype...
- Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutationsS T de Bot
Department of Neurology, Radboud University Nijmegen Medical Centre, Donders Centre for Brain Cognition and Behaviour, Nijmegen, The Netherlands
J Neurol Neurosurg Psychiatry 81:1073-8. 2010..In the clinically and genetically heterogeneous group of the hereditary spastic paraplegias (HSPs), mutations in the SPAST gene are most frequently found and cause a pure autosomal dominant form...
- Hereditary spastic paraplegia with frontal lobe dysfunction: a clinicopathologic studyD Yanase
Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13 1, Takara machi, Kanazawa 920 8640, Japan
Neurology 63:2149-52. 2004The authors report an unusual family with hereditary spastic paraplegia (HSP) with frontal lobe dysfunction having the onset in the sixth decade. All the patients showed hypoperfusion in the frontal lobes and thalami on SPECT...
- Spinal anaesthesia in a patient with hereditary spastic paraplegia: case report and literature reviewI Thomas
Department of Obstetric Anaesthesia, St Michael s Hospital, Bristol, UK
Int J Obstet Anesth 15:254-6. 2006We report the use of spinal anaesthesia in a patient with hereditary spastic paraplegia who presented for manual removal of placenta following a normal vaginal delivery...
- Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutationsJennifer L Orthmann-Murphy
Department of Neurology, University of Pennsylvania School of Medicine, Room 464 Stemmler Hall, Philadelphia, PA 19104 6077, USA
Brain 132:426-38. 2009..Thus, GJA12/GJC2 mutations can result in a milder phenotype than previously appreciated, but whether I33M retains a function of Cx47 not directly related to forming functional gap junction channels is not known...
- Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndromeSylvain Hanein
Institut National de la Sante et de la Recherche Medicale INSERM, Unité Mixte de Recherche UMR S679, Neurologie et Thérapeutique Expérimentale, Paris, F 75013 France
Am J Hum Genet 82:992-1002. 2008..In cultured cells, spastizin colocalized partially with markers of endoplasmic reticulum and endosomes, suggesting a role in intracellular trafficking...
- The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondriaMark Nolden
Institute for Genetics and Center for Molecular Medicine, University of Cologne, 50674 Cologne, Germany
Cell 123:277-89. 2005..including respiratory deficiencies, mitochondrial morphology defects, and axonal degeneration in hereditary spastic paraplegia (HSP). The molecular basis of these defects, however, remained unclear...
- Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13)J Hansen
Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Aarhus, Denmark
Neuroscience 153:474-82. 2008..the HSPD1 gene that encodes Hsp60 have been identified in patients with an autosomal dominant form of hereditary spastic paraplegia (SPG13), a late-onset neurodegenerative disorder characterized by a progressive paraparesis of the ..
- SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegiaC Paisan-Ruiz
Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, 35 Lincoln Drive, Building 35, Room 1A1015, Bethesda, MD 20824, USA
Neurology 70:1384-9. 2008Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common form of complex hereditary spastic paraplegia...
- New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1Antonio Orlacchio
Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, Rome, Italy
Ann Neurol 58:423-9. 2005..Using a genome-wide mapping approach, we identified a novel locus (SPG29) for this form of hereditary spastic paraplegia on chromosome 1p31.1-21.1 and narrowed it to 22.3cM between markers D1S2889 and D1S248...
- Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegiaMarcia A Blair
Department of Neurology, Vanderbilt University, Nashville, TN 37232 8552, USA
Neurogenetics 7:47-50. 2006Autosomal dominant hereditary spastic paraplegia (AD HSP) linked to chromosome 12q (SPG10) is caused by mutations in the neuronal kinesin heavy-chain KIF5A gene...
- The Drosophila homologue of the hereditary spastic paraplegia protein, spastin, severs and disassembles microtubulesAntonina Roll-Mecak
The Howard Hughes Medical Institute and the Department of Cellular and Molecular Pharmacology, University of California, San Francisco, California 94143, USA
Curr Biol 15:650-5. 2005..We show that D-spastin, like katanin, displays ATPase activity and uses energy from ATP hydrolysis to sever and disassemble microtubules; disease mutations abolish or partially interfere with these activities...
- SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 yearsM Namekawa
INSERM U679 former 289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
Neurology 66:112-4. 2006Seven families with six different SPG3A mutations were identified among 106 with autosomal dominant hereditary spastic paraplegia (HSP). Two mutations were novel (T162P, C375R)...
- Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severingSusan Roehl White
Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
J Cell Biol 176:995-1005. 2007Spastin, an AAA ATPase mutated in the neurodegenerative disease hereditary spastic paraplegia, severs microtubules...
- Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegiaM Fichera
Genetic Diagnostic Laboratory, IRCCS Oasi M SS Troina, Italy
Neurology 63:1108-10. 2004..Subsequent to a denaturing high performance liquid chromatography (dHPLC) mutation screening we found a new missense mutation 838C>T (R280C) at an invariant arginine residue in a region involved in the microtubule binding activity...
- Translating m-AAA protease function in mitochondria to hereditary spastic paraplegiaElena I Rugarli
Istituto Nazionale Neurologico C Besta, Division of Biochemistry and Genetics, 20126 Milan, Italy
Trends Mol Med 12:262-9. 2006b>Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disorder that is characterized by progressive and cell-specific axonal degeneration...
- Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegiaJulia M Edgar
Applied Neurobiology Group, Institute of Comparative Medicine, University of Glasgow, Scotland, UK
J Cell Biol 166:121-31. 2004..Using a mouse model of hereditary spastic paraplegia type 2 due to a null mutation of the myelin Plp gene, we find a progressive impairment in fast ..
- Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxiaA H Schapira
University Department of Clinical Neurosciences, Royal Free and University College Medical School, Rowland Hill Street, London NW3 2PF
Biochim Biophys Acta 1410:159-70. 1999..Clarifying the role of mitochondria in pathogenesis may provide opportunities for the development of treatments designed to reverse or prevent neurodegeneration...
- The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegiaFrancesca D Ciccarelli
European Molecular Biology Laboratory, Meyerhofstr 1, 69012 Heidelberg, Germany
Genomics 81:437-41. 2003..of a sequence domain of approximately 80 amino acids in two molecules, spartin and spastin, mutated in hereditary spastic paraplegia. The domain, which corresponds to a slightly extended version of the recently described ESP domain of ..
- Hereditary spastic paraplegia, bipolar affective disorder and intellectual disability: a case reportMarie Whitty
St Raphael s Hospital, Celbridge, Co Kildare, Ireland
J Intellect Disabil 12:41-8. 2008This is a case report of a gentleman with an intellectual impairment who presented with both hereditary spastic paraplegia (HSD) and bipolar affective disorder (BPAD), a combination that has not yet been described in the professional ..
- Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegiaMoneef Shoukier
Institute of Human Genetics, University of Goettingen, Goettingen, Germany
Eur J Hum Genet 17:187-94. 2009..encoding for spastin plays a central role in the genetically heterogeneous group of diseases termed hereditary spastic paraplegia (HSP)...
- Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degenerationPaola Martinelli
Division of Biochemistry and Genetics, Istituto Neurologico C Besta, Milan, Italy
Hum Mol Genet 18:2001-13. 2009..Loss of function of paraplegin (encoded by the SPG7 gene) causes hereditary spastic paraplegia, a disease characterized by retrograde degeneration of cortical motor axons...
- Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31Stephan Zuchner
Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 79:365-9. 2006b>Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections...
- Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegiaMirko Koppen
Institut fur Genetik, Universitat zu Koln, Zulpicher Strasse, 0674 Köln, Germany
Mol Cell Biol 27:758-67. 2007..Mutations in the m-AAA protease subunit paraplegin cause axonal degeneration in hereditary spastic paraplegia (HSP), but the basis for the unexpected tissue specificity is not understood...
- Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegiaChristos Proukakis
Dept of Medical Genetics, St George s Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK
J Neurol 251:1105-10. 2004..Troyer syndrome, originally described in 1967 in an Old Order Amish population, is a complicated form of hereditary spastic paraplegia (HSP) inherited in an autosomal recessive fashion and slowly progressive...
- Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosumShu sheng Liao
Department of Neurology, Xiangya Hospital, Central South University, 87 Xiangya Road, Changsha 410008, Hunan, China
J Neurol Sci 275:92-9. 2008b>Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a clinically and genetically heterogeneous neurodegenerative disorder with genetic linkage to multi-loci...
- NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)Shirley Rainier
Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA
Am J Hum Genet 73:967-71. 2003..Identification of the NIPA1 function and ligand will aid an understanding of axonal neurodegeneration in HSP and may have important therapeutic implications...
- A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14P A Wilkinson
J Med Genet 42:80-2. 2005
- A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegiaP A Wilkinson
Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK
Neurology 61:235-8. 2003..and genetic study of a large consanguineous English family with uncomplicated autosomal recessive hereditary spastic paraplegia (ARHSP)...
- An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindredFrancois Gros-Louis
Ann Neurol 53:144-5. 2003
- Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?Joanna C Bakowska
Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 3704, USA
Arch Neurol 65:520-4. 2008..This mutation is predicted to cause premature termination of the spartin protein. However, it remains unknown whether this truncated spartin protein is absent or is present and partially functional in patients...
- Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degenerationGiovanni Stevanin
1INSERM, U679, Universite Pierre et Marie Curie Paris 6, UMR S679, Paris, France
Brain 131:772-84. 2008..In conclusion, our study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype...
- Clinical features of hereditary spastic paraplegia due to spastin mutationC J McDermott
Sheffield Care and Research Centre for Motor Neuron Disorders, Academic Neurology Unit, University of Sheffield, Sheffield, UK
Neurology 67:45-51. 2006..The phenotype associated with HSP due to mutation in the spastin gene (SPG4) tends to be pure HSP...
- CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5Cyril Goizet
INSERM UPMC UMR_S 975 ex U679, CRicm, Bat Pharmacie, Pitie Salpetriere Hospital, 47 Boulevard de l Hopital, Paris Cedex 13, France
Brain 132:1589-600. 2009..boundaries of the CYP7B1 gene by direct sequencing in a series of 82 unrelated autosomal recessive hereditary spastic paraplegia index patients, manifesting either a pure (n = 52) or a complex form (n = 30) of the disease, and in ..
- Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neuronsDimitri Robay
Medical Genetics, St George s, University of London, Cranmer Terrace, London SW17 0RE, UK
Exp Cell Res 312:2764-77. 2006Mutation of spartin (SPG20) underlies a complicated form of hereditary spastic paraplegia, a disorder principally defined by the degeneration of upper motor neurons...
- Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneityAlexander Lossos
Department of Neurology, Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University Medical Center, Jerusalem 91120, Israel
Arch Neurol 63:756-60. 2006b>Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) is an autosomal recessive form of complicated HSP mainly characterized by slowly progressive spastic paraparesis and mental deterioration beginning in the second decade ..
- Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its Caenorhabditis elegans homolog trigger neural degeneration in vitro and in vivo through a gain-of-function mechanismJiali Zhao
Department of Neurology, Vanderbilt University, Nashville, Tennessee 37232 8552, USA
J Neurosci 28:13938-51. 2008..We propose that HSP-associated mutations in NIPA1 lead to cellular and functional deficits through a gain-of-function mechanism supporting the ER accumulation of toxic NIPA1 proteins...
- Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegiaChristel Depienne
J Med Genet 44:281-4. 2007Point mutations in SPG4, the gene encoding spastin, are a frequent cause of autosomal dominant hereditary spastic paraplegia (AD-HSP). However, standard methods for genetic analyses fail to detect exonic microdeletions.
- Botulinum neurotoxin type A injections reduce spasticity in mild to moderate hereditary spastic paraplegia--report of 19 casesMartin J Hecht
Department of Neurology, University of Erlangen Nuremberg, Erlangen, Germany
Mov Disord 23:228-33. 2008b>Hereditary spastic paraplegia (HSP) is characterized by lower extremity spasticity. Symptomatic therapy generally includes physical therapy and oral antispastic agents, in selected cases intrathecal baclofen...
- Hereditary spastic paraplegias: an updateChristel Depienne
INSERM, U679, Paris, France
Curr Opin Neurol 20:674-80. 2007..Cerebral MRI and the familial history of each patient with spastic paraplegia are the minimal clinical elements needed to orient genetic testing...
- A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigreeMiguel Mitne-Neto
Departamento de Genética e Biologia Evolutiva, Human Genome Research Center, Bioscience Institute, University of Sao Paulo, Sao Paulo, Brazil
Eur J Hum Genet 15:1276-9. 2007SPG4 mutations are the most frequent cause of autosomal-dominant hereditary spastic paraplegia (HSP). SPG4 HSP is characterized by large inter- and intrafamilial variability in age at onset (AAO) and disease severity...
- Hereditary spastic paraplegia caused by mutations in the SPG4 geneJ Burger
Institute of Human Genetics, Charite, Humboldt Universitat, Berlin, Germany
Eur J Hum Genet 8:771-6. 2000Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterised by progressive spasticity of the lower limbs...
- Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspotsChristian Beetz
Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitatsklinikum, 07747 Jena, Germany
J Neurol Sci 268:131-5. 2008Mutations in NIPA1 cause hereditary spastic paraplegia type 6 (SPG6 HSP). Sequencing of the whole gene has revealed alterations of either of two nucleotides in eight of nine SPG6 HSP families reported to date...
- Hereditary spastic paraplegia 3A associated with axonal neuropathyNeviana Ivanova
Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria
Arch Neurol 64:706-13. 2007To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia.
- Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegiaI K Svenson
Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 68:1077-85. 2001Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant hereditary SPG, a neurodegenerative disease characterized primarily by hyperreflexia and progressive spasticity of the lower limbs...
- Molecular basis of inherited spastic paraplegiasG Casari
Human Molecular Genetics Unit, Stem Cells Research Institute SCRI, Dibit San Raffaele Hospital, Via Olgettina 58, 20132, Milan, Italy
Curr Opin Genet Dev 11:336-42. 2001Recently, paraplegin and spastin have been found to be mutated in two autosomal forms of hereditary spastic paraplegia. Both proteins harbour a common ATPase domain that expresses a chaperone function...
- Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosumGiovanni Stevanin
INSERM, UMR679, Federal Institute for Neuroscience Research, Pitie Salpetriere Hospital, Paris, France
Nat Genet 39:366-72. 2007Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected ..
- Recent advances in hereditary spastic paraplegiaC M Tallaksen
INSERM U289, , , , , Paris, France
Curr Opin Neurol 14:457-63. 2001..Surprisingly, the five genes encode proteins of different families, making understanding and diagnosis of HSP even more difficult. The discovery of new genes should hopefully help to clarify the pathophysiology of these disorders...
- NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporterAngela Goytain
Department of Medicine and Department of Psychiatry, University of British Columbia, Vancouver, British Columbia V6T 1Z3, Canada
J Biol Chem 282:8060-8. 2007..for "nonimprinted in Prader-Willi/Angelman" has been implicated in one form of autosomal dominant hereditary spastic paraplegia (HSP), a neurodegenerative disorder characterized by progressive lower limb spasticity and weakness...
- The hereditary spastic paraplegia protein spartin localises to mitochondriaJianping Lu
UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Ireland
J Neurochem 98:1908-19. 2006b>Hereditary spastic paraplegia describes a diverse group of disorders characterized by progressive paraparesis primarily affecting lower limbs...
- Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegiaS Sauter
Institute of Human Genetics, University of Gottingen, Gottingen, Germany
Hum Mutat 20:127-32. 2002..Autosomal dominant hereditary spastic paraplegia 4 linked to chromosome 2p (SPG4) is the most common form of autosomal dominant hereditary spastic ..
- Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegiaClarice Patrono
IRCCS Children s Hospital Bambino Gesù, Rome, Italy
J Neurol 249:200-5. 2002..The current study expands the spectrum of allelic variants in SPG4, confirming their pathological significance in pure AD-HSP and suggesting implications for the presumed function of spastin...
- Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partnersChristopher M Sanderson
The Psychological Laboratory, School of Biomedical Sciences, University of Liverpool, Crown Street, Liverpool L69 3BX, UK
Hum Mol Genet 15:307-18. 2006..They also provide further evidence for a physiological and pathological role of spastin in membrane dynamics...
- Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleusDelphine Charvin
Molecular Neurogenetics Laboratory, Institut National de la Sante et de la Recherche Medicale, E 0223 Université d Evry, Genopole, Evry, France
Hum Mol Genet 12:71-8. 2003Mutations of spastin are responsible for the most common autosomal dominant form of hereditary spastic paraplegia (AD-HSP), a disease characterized by axonal degeneration of corticospinal tracts and posterior columns...
- FASEB SRC on Mitochondrial Assembly &Dynamics in Health, Disease &AgingAntoni Barrientos; Fiscal Year: 2011..Leber's Hereditary Optic Neuropathy (LHON), Leigh's Syndrome, Charcot-Marie-Tooth Syndrome, Hereditary Spastic Paraplegia, and Friedreich's ataxia...
- Innate Immune Mechanisms of Motor Neuron InjuryTimothy Vartanian; Fiscal Year: 2010..motor injury occurs in a number of neurodegenerative diseases such as Primary Lateral Sclerosis, pure Hereditary Spastic Paraplegia, Kennedy's disease, Spinal Muscular Atrophy, Progressive Muscular Atrophy, and amyotrophic ..
- AAA ATPases linking mitochondria with microtubule processing in flies and yeastKaren G Hales; Fiscal Year: 2012..shaping is mediated by fly and yeast mitochondrial proteins related to those implicated in hereditary spastic paraplegia will enable characterization of related functions in humans...
- Axonal Transport Deficits during Hereditary Spastic ParaplegiaGERARDO ANDRES MORFINI; Fiscal Year: 2013..The ultimate goal of this project is to define disease mechanisms and identify novel therapeutic targets in HSP. ..
- MOLECULAR MECHANISMS OF AXONAL TRANSPORTSCOTT THOMAS BRADY; Fiscal Year: 2011..and multifactorial, reductions in FAT are sufficient to produce a distal axonopathy in diseases like hereditary spastic paraplegia and disruption of FAT are documented components of pathogenesis in other neurodegenerative diseases, ..
- Mechanisms of Nuclear and Cell Fusion in YeastMARK DAVID ROSE; Fiscal Year: 2013..of the outer membrane is related to ER fusion and mutations in this pathway have been identified in hereditary spastic paraplegia. How the inner membranes fuse is not known...
- Neuronal Cell Cycle and SurvivalNicholas E Baker; Fiscal Year: 2013..Disease, Amylotrophic Lateral Sclerosis, Huntington's Disease, Charcot-Marie Tooth Disease, hereditary spastic paraplegia SPG10, Spinocerebellar Ataxia type 5, Fronto-temporal Dementia, certain viral encephalitis syndromes, ..
- Biological models of molecular pathogenesis if hereditary spastic paraplegiaPeter Hedera; Fiscal Year: 2011DESCRIPTION (provided by applicant): Project Summary: Hereditary spastic paraplegia (HSP) is a group of untreatable neurodegenerative disorders with axonal degeneration that causes severe disability...
- Fate specification of corticospinal neurons by cell autonomous signalingPaola Arlotta; Fiscal Year: 2013..humans, selectively dies in neurodegenerative diseases, including Amyotrophic Lateral Sclerosis (ALS), Hereditary Spastic Paraplegia (HSP), and Primary Lateral Sclerosis (PLS)...
- SWS/NTE function in neurodegeneration and axonopathyDoris Kretzschmar; Fiscal Year: 2013..In addition, recently described mutations in the human gene cause a hereditary spastic paraplegia called NTE--related Motor Neuron Disorder...
- Biochemical analysis of the ER fusion protein allastinJames A McNew; Fiscal Year: 2013..This work will contribute to two very important areas of research, the pathophysiology of Hereditary Spastic Paraplegia and the general mechanism of membrane fusion...
- Defining the regulatory role of mitotic cyclins on Endoplasmic Reticulum reorganiBLAKE E RIGGS; Fiscal Year: 2013..a host of chronic diseases such as type-2 diabetes and autism, and neurodegenerative diseases such as hereditary spastic paraplegia (HSP) and Alzheimer's disease...
- Genetic Analysis of the Roles and Regulation of Microtubule Severing in NeuronsNina Tang Sherwood; Fiscal Year: 2011..mutations in the microtubule severing protein Spastin are the major cause of Autosomal Dominant Hereditary Spastic Paraplegia, a debilitating neurodegenerative disease in which the longest axon tracts of the central nervous ..
- SEQUENCE DETERMINANTS OF PROTEIN STRUCTURE AND STABILITYRobert T Sauer; Fiscal Year: 2013..For example, mutations in the m-AAA mitochondrial protease result in hereditary spastic paraplegia. ClpXP can also promote bacterial pathogenesis and is an antibiotic target...
- Characterization of nucleotide-dependent structural rearrangements in atlastinLAURA JEAN BYRNES; Fiscal Year: 2012b>Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders that cause progressive spasticity and weakness in the lower extremities...
- The role of UCHL1 on the health and stability of upper motor neuronsPembe Hande Ozdinler; Fiscal Year: 2013..the motor neuron circuitry, and their degeneration leads to various neurodegenerative diseases such as hereditary spastic paraplegia, primary lateral sclerosis and they degenerate together with spinal motor neurons in amyotrophic ..
- A system for in vivo structure-function analysis of kinesin in neurodegenerationInna Djagaeva; Fiscal Year: 2013..20 different mutant amino acid changes in KIF5A, a human Khc homolog, have been identified as causing hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth (CMT2) neurodegenerative diseases...
- Parkinson's Disease and Mechanisms of Fast Axonal TransportRamona Pufan; Fiscal Year: 2009..of Alzheimer's and Huntington's diseases as well as motor neuron diseases such as Hereditary Spastic Paraplegia and peripheral neuropathies...
- Envronment-Sensitive genes in motoneuron degenerationTeepu Siddique; Fiscal Year: 2010..Mutations in the second gene, CYP7B1, are caused in corticospinal degeneration in a form of hereditary spastic paraplegia (SPG5A)...
- Genome Studies in Hereditary Spastic ParaplegiaStephan Zuchner; Fiscal Year: 2013..We propose to study well defined relatively small Mendelian families with Hereditary Spastic Paraplegia (HSP), a disabling neurodegenerative disease...
- SYMPOSIUM ON HEREDITARY SPASTIC PARAPLEGIAJohn Fink; Fiscal Year: 1999b>Hereditary Spastic Paraplegia (HSP) is a group of disorders characterized by progressive lower extremity spastic weakness...
- Mitochondrial Assembly and Dynamics in Health and DiseaseCarla Koehler; Fiscal Year: 2009..Leigh's Syndrome, Deafness-Dystonia Syndrome, Barth Syndrome, Charcot-Marie-Tooth Syndrome, Hereditary Spastic Paraplegia, and Friedreich's ataxia...
- Predicting common protein mechanisms by the light of evolutionANDREW NEUWALD; Fiscal Year: 2009..AAA+ ATPases are associated with hereditary spastic paraplegia and the neurologic disorders torsin dystonia, Zellweger syndrome, neonatal adrenoleukodystrophy, and ..
- The NIPA 1 protein in spastic paraplegia and developmentROBERT NICHOLLS; Fiscal Year: 2009SPG6, a hereditary spastic paraplegia, has insidiously progressive lower-extremity spasticity with degeneration of long central nervous system axons. The SPG6 locus maps to chromosome 15q11...
- The Functional analysis of the novel protein spartin.JOANNA BAKOWSKA; Fiscal Year: 2009DESCRIPTION (provided by applicant): Troyer syndrome is a "complex" form of an autosomal recessive hereditary spastic paraplegia that results from a frameshift mutation in the spartin gene, SPG20...
- Molecular Basis for Protein Interactions with a Biological NanomachineRIINA TEHVER; Fiscal Year: 2009..to cure diseases that have been directly linked to human chaperonins'malfunctioning such as hereditary spastic paraplegia or McKusick-Kaufman Syndrome...
- Hereditary Spastic Paraplegia due to SPG3A/atlastin mutationJohn Fink; Fiscal Year: 2009....
- HEREDITARY SPASTIC PARAPLEGIA--CLINICAL, HISTOCHEMICAL,John Fink; Fiscal Year: 2001b>Hereditary Spastic Paraplegia (HSP) refers to a group of disorders characterized by progressive lower extremity spastic weakness...
- International Symposium for Hereditary Spastic ParaplegiaJohn Fink; Fiscal Year: 2007unreadable] DESCRIPTION (provided by applicant): Hereditary Spastic Paraplegia (HSP) is a group of motor neuron disorders characterized by progressive lower extremity spastic weakness...
- Hereditary spastic paraplegia linked to chromosomes 8qPeter Hedera; Fiscal Year: 2006b>Hereditary Spastic Paraplegia (HSP) is a neurological disorder characterized by spasticity and weakness of the lower extremities. HSP is progressive, has no known treatment and affected subjects frequently become wheelchairdependent...
- In Vitro Cell Models of NeuroAIDSHarris Gelbard; Fiscal Year: 2005..Results from these experiments will significantly advance our understanding of how vulnerable neurons respond to HIV-1 neurotoxicants prior to apoptosis. ..
- CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASESalvatore DiMauro; Fiscal Year: 2007....
- Bioenergetics in Animal Models of Huntington's DiseaseM Beal; Fiscal Year: 2007..We will, therefore, examine whether a combination of creatine or coenzyme Q with either a HDAC inhibitor or a phosphodiesterase IV inhibitor can exert additive neuroprotective effects. [unreadable] [unreadable]..
- Antioxidant Approaches to Alzheimer's Disease TherapyM Beal; Fiscal Year: 2007..If we can demonstrate significant effects of CoQ10 and L-NIL, this could lead to rapid development of new therapies for slowing the progression of AD. [unreadable] [unreadable]..
- Evaluating Striatal Function in a Murine HD ModelRoger Albin; Fiscal Year: 2007..Validation of these methods will provide new and useful behavioral tools for evaluating murine disease models. [unreadable] [unreadable] [unreadable]..
- Parkin mutations and their functional consequencesAlexis Brice; Fiscal Year: 2005....
- Photoconductive stimulation of synapses and HIV neurotoxinsHarris Gelbard; Fiscal Year: 2008..unreadable] [unreadable] [unreadable]..
- Development of New Therapies for Huntington's DiseaseM Beal; Fiscal Year: 2008..We believe that these studies will provide critical pre-clinical data to determine the agents, which have the most promise for use as neuroprotective agents in clinical drug trials in HD patients. ..
- Connexins in Nerve Regeneration and Inherited NeuropathyCharles Abrams; Fiscal Year: 2009..The experiments outlined in this proposal should play a key role in understanding the role of Cx32 in the Schwann cell and how mutations in Cx32 lead to inherited peripheral neuropathy. ..
- Dynamic Interactions of the CytoskeletonERIKA HOLZBAUR; Fiscal Year: 2008..abstract_text> ..
- Molecular And Genetic Analysis Of Autosomal Dominant Spastic ParaplegiaStephan Zuchner; Fiscal Year: 2011DESCRIPTION (provided by applicant): Hereditary Spastic Paraplegia (HSP) comprises a group of neurodegenerative disorders characterized by progressive spasticity of the lower limbs and has fascinating clinical and pathophysiological ..
- The Pathophysiology of CMT2A in Cell and Animal ModelsStephan Zuchner; Fiscal Year: 2010..3) There is no treatment available for axonal CMT patients, but recent studies based on mouse models for demyelinating neuropathies revealed for the first time promising results for future treatment. ..
- Interactions for Pesticides, mitochondria and genetics in Parkinson's disease.M Flint Beal; Fiscal Year: 2010..The study will enrich and refine our understanding of pesticide-induced cell damage pathways observed in sporadic and familial PD and identify new target(s) for intervention in PD pathogenesis. ..
- Serum Proteomics for Biomarker Discovery in Batten DiseaseDavid Pearce; Fiscal Year: 2008..Completion of the proposed studies would likely prove valuable in identification of markers of more complex neurodegenerative diseases [unreadable] [unreadable] [unreadable] [unreadable]..
- RETINAL CELL MODEL FOR BATTEN DISEASEDavid Pearce; Fiscal Year: 2002....
- MURINE MODEL OF CAG REPEAT DISEASESRoger Albin; Fiscal Year: 2002..These experiments will establish HPRT-CAG mice as important tools for understanding neurodegeneration in CAG repeat diseases and enable accurate preclinical evaluation of interventions for CAG repeat diseases. ..
- 11th International Congress on Neuronal Ceroid LipofuscinosisDavid Pearce; Fiscal Year: 2007..The Congress will aid interactions of researchers that will hopefully expedite a greater understanding for these diseases. [unreadable] [unreadable] [unreadable]..