SPAST

Summary

Gene Symbol: SPAST
Description: spastin
Alias: ADPSP, FSP2, SPG4, spastin, spastic paraplegia 4 (autosomal dominant; spastin), spastic paraplegia 4 protein
Species: human

Top Publications

  1. ncbi Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation
    F M Santorelli
    Molecular Medicine, IRCCS Bambino Gesù, Rome, Italy
    Neurology 55:702-5. 2000
  2. ncbi Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia
    A K Erichsen
    Department of Neurology, Ulleval University Hospital, Oslo, Norway
    Eur J Neurol 14:809-14. 2007
  3. pmc Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
    Seong 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
  4. doi Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia
    R Battini
    Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy
    Eur J Neurol 18:150-7. 2011
  5. ncbi Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
    J Hazan
    Genoscope, Evry, France
    Nat Genet 23:296-303. 1999
  6. ncbi Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
    N Fonknechten
    Genoscope, 2 rue Gaston Cremieux, 91000 Evry, France
    Hum Mol Genet 9:637-44. 2000
  7. pmc Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis
    J C Lindsey
    Human Molecular Genetics Unit, School of Biochemistry and Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4AA, UK
    J Med Genet 37:759-65. 2000
  8. pmc Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
    I K Svenson
    Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 68:1077-85. 2001
  9. ncbi Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
    Alessia Errico
    Telethon Institute of Genetics and Medicine TIGEM, II University of Naples, Naples, Italy
    Hum Mol Genet 11:153-63. 2002
  10. ncbi Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia
    Inge A Meijer
    Centre for Research in Neuroscience, The Montreal General Hospital Research Institute, 1650 Cedar Ave, Room L7 224, Montreal, Quebec, Canada H3G 1A4
    Arch Neurol 59:281-6. 2002

Research Grants

  1. GERARDO ANDRES MORFINI; Fiscal Year: 2014
  2. Genes and Genetic Models in Motor Neuron Disorders
    Teepu Siddique; Fiscal Year: 2007
  3. MOLECULAR CLONING OF FAMILIAL SPASTIC PARAPLEGIA
    Eric Hoffman; Fiscal Year: 1999
  4. HEREDITARY SPASTIC PARAPLEGIA--CLINICAL, HISTOCHEMICAL,
    John Fink; Fiscal Year: 2001
  5. International Symposium for Hereditary Spastic Paraplegia
    John Fink; Fiscal Year: 2007
  6. Hereditary Spastic Paraplegia due to SPG3A/atlastin mutation
    John Fink; Fiscal Year: 2009

Scientific Experts

Detail Information

Publications155 found, 100 shown here

  1. ncbi Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation
    F M Santorelli
    Molecular Medicine, IRCCS Bambino Gesù, Rome, Italy
    Neurology 55:702-5. 2000
    ..They found a novel mutation in the SPG4 gene, which segregates with the disease in six patients...
  2. ncbi Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia
    A K Erichsen
    Department of Neurology, Ulleval University Hospital, Oslo, Norway
    Eur J Neurol 14:809-14. 2007
    To establish the phenotypic variation and frequency of SPAST mutations or deletions in Norwegian patients with hereditary spastic paraplegia (HSP), we examined 59 unrelated patients with HSP and screened for DNA point mutations and ..
  3. pmc Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
    Seong 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
    ..mutations in atlastin-1 (also known as SPG3A), receptor expression enhancing protein 1 (REEP1; SPG31), or spastin (SPG4)...
  4. doi Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia
    R Battini
    Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy
    Eur J Neurol 18:150-7. 2011
    ..SPG7, SPG4 and SPG3A are some of the autosomal genes recently found as mutated in recessive or dominant forms of HSP in ..
  5. ncbi Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
    J Hazan
    Genoscope, Evry, France
    Nat Genet 23:296-303. 1999
    ..SPG4 interval, we identified a candidate gene encoding a new member of the AAA protein family, which we named spastin. Sequence analysis of this gene in seven SPG4-linked pedigrees revealed several DNA modifications, including ..
  6. ncbi Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia
    N Fonknechten
    Genoscope, 2 rue Gaston Cremieux, 91000 Evry, France
    Hum Mol Genet 9:637-44. 2000
    ..The SPG4 locus at 2p21-p22 has been shown to account for approximately 40% of all AD-HSP families. SPG4 encoding spastin, a putative nuclear AAA protein, has recently been identified...
  7. pmc Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis
    J C Lindsey
    Human Molecular Genetics Unit, School of Biochemistry and Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4AA, UK
    J Med Genet 37:759-65. 2000
    Hereditary spastic paraparesis is a genetically heterogeneous condition. Recently, mutations in the spastin gene were reported in families linked to the common SPG4 locus on chromosome 2p21-22.
  8. pmc Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia
    I K Svenson
    Duke University Medical Center, Durham, NC 27710, USA
    Am J Hum Genet 68:1077-85. 2001
    ..It is caused by mutations in the gene encoding spastin, a member of the AAA family of ATPases...
  9. ncbi Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
    Alessia Errico
    Telethon Institute of Genetics and Medicine TIGEM, II University of Naples, Naples, Italy
    Hum Mol Genet 11:153-63. 2002
    ..Most cases of the autosomal dominant form of the disease are due to mutations in the SPG4 gene, which encodes spastin, an ATPase belonging to the AAA family...
  10. ncbi Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia
    Inge A Meijer
    Centre for Research in Neuroscience, The Montreal General Hospital Research Institute, 1650 Cedar Ave, Room L7 224, Montreal, Quebec, Canada H3G 1A4
    Arch Neurol 59:281-6. 2002
    ..The most common form of HSP is caused by mutations in the SPG4 gene, which codes for spastin, an adenosine triphosphatase with various cellular activities (AAA) protein family member.
  11. ncbi Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia
    Clarice Patrono
    IRCCS Children s Hospital Bambino Gesù, Rome, Italy
    J Neurol 249:200-5. 2002
    ..three new SPG4 mutations, all predicting a loss-of-func-tion with apparently important consequences for spastin function. RT-PCR studies predict loss-of-function as a possible mechanism leading to spastin-related HSP...
  12. ncbi Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia
    S Sauter
    Institute of Human Genetics, University of Gottingen, Gottingen, Germany
    Hum Mutat 20:127-32. 2002
    ..It is caused by mutations in the SPG4 gene encoding spastin, a member of the AAA protein family of ATPases...
  13. ncbi Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus
    Delphine 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. 2003
    Mutations 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...
  14. ncbi The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia
    Francesca D Ciccarelli
    European Molecular Biology Laboratory, Meyerhofstr 1, 69012 Heidelberg, Germany
    Genomics 81:437-41. 2003
    ..has revealed the presence of a sequence domain of approximately 80 amino acids in two molecules, spartin and spastin, mutated in hereditary spastic paraplegia...
  15. ncbi The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene
    Stephen B Wharton
    Academic Unit of Pathology, University of Sheffield, Sheffield, United Kingdom
    J Neuropathol Exp Neurol 62:1166-77. 2003
    ..paraparesis (HSP) is a genetically heterogeneous disorder, the most common cause of which is mutation of the spastin gene...
  16. ncbi Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation
    Christopher J McDermott
    Academic Neurology Unit, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, United Kingdom
    Ann Neurol 54:748-59. 2003
    The commonest cause of hereditary spastic paraplegia (HSP) is mutation in the spastin gene...
  17. ncbi Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene
    P F Chinnery
    Department of Neurology, The University of Newcastle upon Tyne, UK
    Neurology 63:710-2. 2004
    The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene...
  18. ncbi The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1B
    Evan Reid
    Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
    Hum Mol Genet 14:19-38. 2005
    ..Mutations in spastin are the most common cause of the condition...
  19. pmc Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing
    Katia J Evans
    Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Cell Biol 168:599-606. 2005
    Mutations 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 ..
  20. ncbi Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia
    Ingrid K Svenson
    Department of Molecular Genetics and Microbiology, Duke University Medical Center, P O Box 3175, Durham, NC 27710, USA
    Neurogenetics 6:135-41. 2005
    ..The most common cause of autosomal dominant HSP is mutation of a novel gene encoding spastin, a protein whose function is still being elucidated...
  21. ncbi Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus
    Pamela Claudiani
    Telethon Institute of Genetics and Medicine TIGEM, Via P Castellino 111, 80131 Naples, Italy
    Exp Cell Res 309:358-69. 2005
    Most cases of autosomal-dominant hereditary spastic paraplegia are linked to mutations in SPG4 encoding spastin, a protein involved in microtubule dynamics and membrane trafficking...
  22. pmc Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners
    Christopher 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
    ..inherited in an autosomal-dominant pattern and are commonly caused by mutations either in the SPG4 gene spastin or in the SPG3A gene atlastin...
  23. ncbi Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein
    Ashraf U Mannan
    Institute of Human Genetics, University of Goettingen, Heinrich Dueker Weg 12, Goettingen 37073, Germany
    Neurogenetics 7:93-103. 2006
    b>Spastin, an ATPase belonging to the AAA family of proteins is most commonly mutated in autosomal dominant hereditary spastic paraplegias (HSP)...
  24. ncbi Spastin in the human and mouse central nervous system with special reference to its expression in the hippocampus of mouse pilocarpine model of status epilepticus and temporal lobe epilepsy
    Dong Liang Ma
    Epilepsy Research Laboratory, National Neuroscience Institute, Singapore 308433, Singapore
    Neurochem Int 49:651-64. 2006
    ..hybridization and immunocytochemical studies in the mouse central nervous system (CNS), a strong expression of spastin mRNA and protein was found in Purkinje cells and dentate nucleus in the cerebellum, in hippocampal principal ..
  25. ncbi High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
    C Beetz
    Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitatsklinikum Jena, D 07740 Jena, Germany
    Neurology 67:1926-30. 2006
    ..The most frequent cause of autosomal dominant HSP is mutation of SPAST (SPG4 locus), but additional pedigrees remain mutation negative by conventional screening despite linkage to SPG4.
  26. pmc Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
    Christel Depienne
    J Med Genet 44:281-4. 2007
    Point 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.
  27. pmc Recognition of C-terminal amino acids in tubulin by pore loops in Spastin is important for microtubule severing
    Susan Roehl White
    Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Cell Biol 176:995-1005. 2007
    b>Spastin, an AAA ATPase mutated in the neurodegenerative disease hereditary spastic paraplegia, severs microtubules...
  28. ncbi A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree
    Miguel 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. 2007
    b>SPG4 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...
  29. pmc Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin
    Antonina 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
    b>Spastin, the most common locus for mutations in hereditary spastic paraplegias, and katanin are related microtubule-severing AAA ATPases involved in constructing neuronal and non-centrosomal microtubule arrays and in segregating ..
  30. pmc A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform
    Giuseppe Mancuso
    Division of Biochemistry and Genetics, Istituto Neurologico C, Besta, Milan, Italy
    BMC Biol 6:31. 2008
    ..SPG4 encodes spastin, a microtubule-severing ATPase belonging to the AAA family...
  31. pmc Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1B
    Dong Yang
    Laboratory of Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, US Department of Health and Human Services, Bethesda, Maryland 20892, USA
    Nat Struct Mol Biol 15:1278-86. 2008
    ..charged multivesicular body protein 1B (CHMP1B) is required for recruitment of the MIT domain-containing protein spastin, a microtubule-severing enzyme, to the midbody. The 2...
  32. pmc Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion
    James W Connell
    Department of Medical Genetics and Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
    Traffic 10:42-56. 2009
    Mutations in the gene encoding the microtubule (MT)-severing protein spastin are the most common cause of hereditary spastic paraplegia, a genetic condition in which axons of the corticospinal tracts degenerate...
  33. doi Pleiotropic effects of spastin on neurite growth depending on expression levels
    Elena Riano
    Division of Biochemistry and Genetics, Istituto Neurologico C Besta, Milan, Italy
    J Neurochem 108:1277-88. 2009
    ..The most common form is due to heterozygous mutations in the SPG4 gene, encoding spastin, a microtubule (MT)-severing protein...
  34. pmc The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling
    Hilda T H Tsang
    Cambridge Institute for Medical Research, Addenbrooke s Hospital, UK
    Hum Mol Genet 18:3805-21. 2009
    ..In addition, we demonstrate that two other members of the endosomal group of HSP proteins, spastin and spartin, are inhibitors of BMP signalling...
  35. pmc Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia
    Joanna 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. 2010
    ..Because the protein encoded by SPG4, termed spastin, is a microtubule-severing enzyme, a loss-of-function scenario for the disease suggests that corticospinal axons ..
  36. doi Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations
    S 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.
  37. pmc SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis
    Benoît Renvoisé
    Cellular Neurology Unit, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke and Laboratory of Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Biol Cell 21:3293-303. 2010
    ..These data suggest that Ist1 interaction is important for spartin recruitment to the midbody and that spartin participates in cytokinesis...
  38. doi Cortical constriction during abscission involves helices of ESCRT-III-dependent filaments
    Julien Guizetti
    Institute of Biochemistry, Department of Biology, Swiss Federal Institute of Technology Zurich ETHZ, Schafmattstrasse 18, Zurich, Switzerland
    Science 331:1616-20. 2011
    ..Simultaneous spastin-mediated removal of underlying microtubules enabled full constriction at the abscission site...
  39. pmc Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
    Gladys Montenegro
    Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA
    J Clin Invest 122:538-44. 2012
    ..together to shape the ER into sheets and tubules - receptor accessory protein 1 (REEP1), atlastin-1 (ATL1), and spastin (SPAST) - have been found to underlie many cases of HSP in Northern Europe and North America...
  40. pmc A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations
    Greger Abrahamsen
    National Centre for Adult Stem Cell Research, Eskitis Institute for Cell and Molecular Therapies, Griffith University, Brisbane, Queensland 4111, Australia
    Dis Model Mech 6:489-502. 2013
    ..Mutations in SPAST are a major cause of adult-onset, autosomal-dominant HSP. Spastin, the protein encoded by SPAST, is a microtubule-severing protein that is enriched in the distal axon of ..
  41. pmc Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia
    Kyle R Denton
    Department of Neuroscience, The University of Connecticut Health Center, Farmington, Connecticut, USA
    Stem Cells 32:414-23. 2014
    ..HSP, is caused by autosomal dominant mutations in the SPAST gene, which encodes the microtubule-severing ATPase spastin. Here, we have generated a human neuronal model of SPG4 by establishing induced pluripotent stem cells (iPSCs) ..
  42. pmc Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons
    Steven Havlicek
    IZKF Junior Research Group and BMBF Research Group Neuroscience, IZKF, Friedrich Alexander University Erlangen Nuernberg FAU, Glückstr 6, Erlangen 91054, Germany
    Hum Mol Genet 23:2527-41. 2014
    ..Mutations in Spastic Gait 4 (SPG4), encoding spastin, are the most frequent cause of HSP...
  43. pmc Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigree
    A Starling
    J Med Genet 39:e77. 2002
  44. ncbi Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene
    C Proukakis
    Department of Medical Genetics, St George s Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK
    Hum Mutat 21:170. 2003
    ..Mutations in SPG4 (encoding spastin) may be responsible for up to 40% of autosomal dominant (AD) cases...
  45. ncbi Novel spastin mutations and their expression analysis in two Italian families
    Annamaria Molon
    Department of Neurosciences, University of Padua, Via Giustiniani 5, 35128 Padua, Italy
    Eur J Hum Genet 11:710-3. 2003
    Mutations in spastin cause the most common form of pure autosomal dominant hereditary spastic paraparesis (SPG4). Here, we report two Italian families affected with SPG4-linked HSP harboring two novel spastin mutations...
  46. ncbi Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia
    Beisha Tang
    National Laboratory of Medical Genetics of China, and the Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People s Republic of China
    Arch Neurol 61:49-55. 2004
    ..The most common form of hereditary spastic paraplegia is caused by mutations in the spastin gene (SPG4), which encodes spastin, an adenosine triphosphatase associated with various cellular activities ..
  47. ncbi Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations
    Ingrid K Svenson
    Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, NC 27710, USA
    Neurogenetics 5:157-64. 2004
    ..The most-common cause of autosomal dominant HSP is mutation of the gene encoding spastin, a protein of uncertain function...
  48. ncbi Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon
    Alessia Errico
    Telethon Institute of Genetics and Medicine, Via P Castellino 111, 80131 Naples, Italy
    Hum Mol Genet 13:2121-32. 2004
    ..The gene most frequently involved in autosomal dominant cases of this disease, SPG4, encodes spastin, an ATPase belonging to the AAA family...
  49. ncbi Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations
    Clarice Patrono
    Molecular Medicine, IRCCS Bambino Gesù, Rome, Italy
    Hum Mutat 25:506. 2005
    ..protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype...
  50. pmc Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases
    C Depienne
    J Med Genet 43:259-65. 2006
    SPG4 encodes spastin, a member of the AAA protein family, and is the major gene responsible for autosomal dominant spastic paraplegia...
  51. ncbi Human spastin has multiple microtubule-related functions
    Sara Salinas
    Molecular NeuroPathobiology Laboratories, Cancer Research UK London Research Institute, Lincoln s Inn Fields Laboratories, London, UK
    J Neurochem 95:1411-20. 2005
    ..The most frequently mutated gene causing autosomal dominant HSP is SPG4, which encodes spastin, a protein that belongs to the family of ATPases associated with various cellular activities (AAAs)...
  52. pmc Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance
    Katia Evans
    Department of Pathology and Taub Institute for Research on Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 103:10666-71. 2006
    ..Here, we show a physical interaction between spastin and atlastin, two autosomal dominant HSP gene products...
  53. pmc ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia
    Ashraf U Mannan
    Institute of Human Genetics, University of Goettingen, Heinrich Dueker Weg 12, D 37073, Goettingen, Germany
    Am J Hum Genet 79:351-7. 2006
    b>Spastin, the most commonly mutated protein in the autosomal dominant form of hereditary spastic paraplegia (AD-HSP) has been suggested to be involved in vesicular cargo trafficking; however, a comprehensive function of spastin has not ..
  54. doi Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families
    J L Loureiro
    UnIGENe, IBMC Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal
    Acta Neurol Scand 119:113-8. 2009
    ..Mutations in the SPG4 and SPG3A genes are responsible for approximately 50% of autosomal dominant HSP...
  55. pmc Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia
    Moneef Shoukier
    Institute of Human Genetics, University of Goettingen, Goettingen, Germany
    Eur J Hum Genet 17:187-94. 2009
    The SPAST gene encoding for spastin plays a central role in the genetically heterogeneous group of diseases termed hereditary spastic paraplegia (HSP)...
  56. doi The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia
    Mark Braschinsky
    Department of Neurology, Tartu University Clinics, Tartu, Estonia
    Neuroepidemiology 32:89-93. 2009
    ..5 to 12 per 100,000. The aim of this retrospective study was to evaluate the prevalence of HSP and estimate the percentage of SPG4 mutations in the Estonian population.
  57. doi Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations
    C Scuderi
    Unità Operativa di Malattie Neuromuscolari, IRCCS Oasi Maria SS, Troina, EN, Italy
    J Neurol Neurosurg Psychiatry 80:440-3. 2009
    Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic hereditary paraparesis...
  58. doi Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia
    Kirsten Svenstrup
    Section of Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark
    J Neurol Sci 284:90-5. 2009
    ..The most common forms of autosomal dominant HSP, SPG4 and SPG3, are caused by sequence variants in the SPAST and SPG3A genes, respectively...
  59. doi Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
    Angela Magariello
    Institute of Neurological Sciences, National Research Council, 87050 Mangone, Cosenza, Italy
    J Neurol Sci 288:96-100. 2010
    Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12-18% of sporadic cases...
  60. pmc Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements
    Mark Braschinsky
    Department of Neurology, University of Tartu, Estonia
    BMC Neurol 10:17. 2010
    ..The most common autosomal-dominant form of the disease derives from mutations in the SPAST gene.
  61. pmc Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia
    D S McCorquodale
    John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA
    Clin Genet 79:523-30. 2011
    ..Mutations in the genes atlastin, spastin and REEP1 are estimated to account for up to 50% of autosomal-dominant HSP and currently guide the molecular ..
  62. pmc Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
    Victoria Alvarez
    Laboratory of Molecular Genetics Genetic Unit, Hospital Universitario Central de Asturias, Oviedo, Spain
    BMC Neurol 10:89. 2010
    ..Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases.
  63. ncbi Hereditary spastic paraplegia caused by mutations in the SPG4 gene
    J Burger
    Institute of Human Genetics, Charite, Humboldt Universitat, Berlin, Germany
    Eur J Hum Genet 8:771-6. 2000
    ..The SPG4 gene was recently identified. It is ubiquitously expressed in adult and foetal tissues and encodes spastin, an ATPase of the AAA family...
  64. ncbi Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation
    J E Nielsen
    Department of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Copenhagen, Denmark
    Eur J Neurol 11:817-24. 2004
    ..Sequence analysis of the SPG4 (spastin) gene identified a novel 1593 C > T (GLN490Stop) mutation leading to premature termination of exon 12 with ..
  65. ncbi The hereditary spastic paraplegia gene, spastin, regulates microtubule stability to modulate synaptic structure and function
    Nick Trotta
    Department of Biological Sciences, Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37235, USA
    Curr Biol 14:1135-47. 2004
    ..Over 20 genes have been linked to HSP in humans; however, mutations in one gene, spastin (SPG4), are the cause of >40% of all cases...
  66. ncbi Hereditary spastic paraplegia 3A associated with axonal neuropathy
    Neviana Ivanova
    Laboratory of Molecular Pathology, Sofia Medical University, Sofia, Bulgaria
    Arch Neurol 64:706-13. 2007
    ..To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia...
  67. ncbi Hereditary spastic paraplegias
    K K Lau
    Department of Medicine and Geriatrics, Princess Margaret Hospital, Laichikok, Kowloon, Hong Kong
    Hong Kong Med J 15:217-20. 2009
    ..About 40% of cases of hereditary spastic paraplegia are due to mutations in SPG4 encoding for spastin, while 10% are due to mutations in SPG3A encoding for atlastin...
  68. ncbi Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
    Annette Abel
    Molecular Genetics Section, Clinic for Neurology, JW Goethe University, House 26, Theodor Stern Kai 7, 60590 Frankfurt, Germany
    Neurogenetics 5:239-43. 2004
    ..the genes responsible for the two most frequent forms of autosomal dominant spastic paraplegia (AD-HSP), encoding spastin (SPG4) and atlastin (SPG3A), respectively...
  69. ncbi Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family
    K Y Chan
    Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Hong Kong
    Hong Kong Med J 15:304-7. 2009
    ..Spastic paraplegia 4, autosomal dominant (SPG4, MIM#182601) and spastic paraplegia 3, autosomal dominant (SPG3A, MIM#182600), account for most autosomal dominant ..
  70. pmc Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia
    Joanna M Solowska
    Department of Neurobiology and Anatomy, Drexel University College of Medicine, Philadelphia, Pennsylvania 19129, USA
    J Neurosci 28:2147-57. 2008
    b>Spastin and P60-katanin are two distinct microtubule-severing proteins...
  71. doi Chinese patients with Machado-Joseph disease presenting with complicated hereditary spastic paraplegia
    S R Gan
    Department of Neurology and Institute of Neurology, First Affiliated Hospital, Center of Neuroscience, Fujian Medical University, Fuzhou, China
    Eur J Neurol 16:953-6. 2009
    ..However, patients are seeking the right diagnosis and it is important for neurologists to distinguish them in the early stage...
  72. ncbi Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection
    Jørgen E Nielsen
    Institute of Medical Biochemistry and Genetics, Department of Medical Genetics, Section of Neurogenetics, University of Copenhagen, The Panum Institute, Copenhagen, Denmark
    Prenat Diagn 24:363-6. 2004
    To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP).
  73. ncbi An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegia
    J J Higgins
    Laboratory of Neurogenetics, Wadsworth Center, New York State Department of Health, Albany, USA
    Neurology 56:1482-5. 2001
    ..To identify the genetic mutation responsible for autosomal dominant spastic paraplegia (HSP) in a large family with a "pure" form of the disorder...
  74. pmc Drosophila spastin regulates synaptic microtubule networks and is required for normal motor function
    Nina Tang Sherwood
    Broad Center, Division of Biology, California Institute of Technology Pasadena, California, USA
    PLoS Biol 2:e429. 2004
    ..form of human autosomal dominant hereditary spastic paraplegia (AD-HSP) is caused by mutations in the SPG4 (spastin) gene, which encodes an AAA ATPase closely related in sequence to the microtubule-severing protein Katanin...
  75. ncbi The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo
    Jonathan D Wood
    MRC Centre Development for Developmental and Biomedical Genetics, Department of Biomedical Science, University of Sheffield, UK
    Hum Mol Genet 15:2763-71. 2006
    ..SPG4 mutations are the most common cause of autosomal dominant HSP and Spastin (the SPG4 gene product) is a microtubule severing protein that shares homology with katanin, the microtubule ..
  76. pmc 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
    Mutations in the SPG4 gene (spastin) and in the SPG3A gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP)...
  77. pmc Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene
    Bo Thomsen
    Department of Genetics and Biotechnology, Faculty of Agricultural Sciences, University of Aarhus, Tjele, Denmark
    Neurogenetics 11:175-83. 2010
    ..Initially, SPAST encoding Spastin was considered a less likely candidate gene for BSD since the modes of inheritance as well as the time of onset ..
  78. doi A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects
    Tobias Warnecke
    Department of Neurology, University Hospital of Munster, Munster, Germany
    Mov Disord 25:413-20. 2010
    ..of swallowing (FEES), neuroimaging analysis including diffusion tensor imaging (DTI), and mutation analysis of SPG4 and SPG7 gene were performed...
  79. pmc Genetic and chemical modulation of spastin-dependent axon outgrowth in zebrafish embryos indicates a role for impaired microtubule dynamics in hereditary spastic paraplegia
    Richard Butler
    MRC Centre for Developmental and Biomedical Genetics, Department of Biomedical Science, University of Sheffield, Sheffield, S10 2TN, UK
    Dis Model Mech 3:743-51. 2010
    Mutations in the SPAST (SPG4) gene, which encodes the microtubule-severing protein spastin, are the most common cause of autosomal dominant hereditary spastic paraplegia (HSP)...
  80. ncbi The C. elegans homologue of the spastic paraplegia protein, spastin, disassembles microtubules
    Yuka Matsushita-Ishiodori
    Division of Molecular Cell Biology, Institute of Molecular Embryology and Genetics, Kumamoto University, 2 2 1 Honjo, Kumamoto 860 0811, Japan
    Biochem Biophys Res Commun 359:157-62. 2007
    Mutations in human spastin (SPG4) cause an autosomal dominant form of hereditary spastic paraplegia...
  81. ncbi Possible anticipation in hereditary spastic paraplegia type 4 (SPG4)
    P Leema Reddy
    New Jersey Neuroscience Institute, JFK Medical Center, Edison, New Jersey 08820, USA
    Can J Neurol Sci 34:208-10. 2007
    ..of the proband revealed a frame shift mutation (5 base pair deletion) in exon 9 of the SPG4 gene encoding the spastin protein...
  82. ncbi A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia
    Guo Hua Zhao
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China
    Chin Med J (Engl) 121:430-4. 2008
    ..Thirteen loci for autosomal dominant HSP have been mapped...
  83. doi [Advances of genetic research on the SPG4 gene]
    Hua rong Yang
    Department of Neurology, Center of Experimental Medicine, Third Xiangya Hospital of Central South University, Changsha, Hunan, 410013 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 27:282-5. 2010
    ..Forty percent of HSP cases are caused by mutations in the spastin (spastic paraplegia-4, SPG4) gene...
  84. ncbi Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
    X Zhao
    Department of Neurology, University of Michigan, Ann Arbor, Michigan 48109, USA
    Nat Genet 29:326-31. 2001
    ..Only SPG4 has been identified as a causative gene in ADHSP. Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes...
  85. ncbi Identification of the Drosophila melanogaster homolog of the human spastin gene
    Lars Kammermeier
    Institute of Zoology, Biozentrum Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland
    Dev Genes Evol 213:412-5. 2003
    The human SPG4 locus encodes the spastin gene, which is responsible for the most prevalent form of autosomal dominant hereditary spastic paraplegia (AD-HSP), a neurodegenerative disorder...
  86. ncbi Spastin and microtubules: Functions in health and disease
    Sara Salinas
    Molecular Neuropathobiology, Cancer Research United Kingdom London Research Institute, Lincoln s Inn Fields Laboratories, London, UK
    J Neurosci Res 85:2778-82. 2007
    SPG4, the gene encoding for spastin, a member of the ATPases associated with various cellular activities (AAA) family, is mutated in around 40% of cases of autosomal dominant hereditary spastic paraplegia (AD-HSP)...
  87. doi A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegia
    Jae Sung Lim
    Department of Neurology, Seoul National University Hospital, Seoul, 28 Yeongeon dong, Jongno gu, Seoul 110 744, Republic of Korea
    J Neurol Sci 290:186-9. 2010
    ..The mutation is located in intron 5, and results in a deletion of the 188bp-sized exon 5. It is likely that the exon 5 deletion leads to spastin dysfunction and cause the typical symptoms and signs of patients.
  88. doi Specific pattern of early white-matter changes in pure hereditary spastic paraplegia
    Thomas Duning
    Department of Neurology, University Hospital of Munster, Munster, Germany
    Mov Disord 25:1986-92. 2010
    ..Here, we examined six patients with pure HSP and SPG4 mutations by clinical evaluation, detailed neuropsychological testing, and neuroimaging analyses, including ..
  89. ncbi SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
    M Namekawa
    INSERM U679 former 289, Federative Institute for Neuroscience Research IFR70, Salpetriere Hospital, Paris, France
    Neurology 66:112-4. 2006
    ..Two mutations were novel (T162P, C375R). SPG3A was twice as frequent as SPG4 in patients with onset before age 10 years (31.8%). Later onset was not observed...
  90. doi [AAA ATPases and hereditary spastic paraplegia]
    Yin guang Wang
    Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 26:298-301. 2009
    ..The authors briefly review the function of spastin (SPG4) and paraplegin (SPG7), both of which belong to AAA ATPases family, and the recent progress of the study on ..
  91. pmc A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34
    B Fontaine
    INSERM CJF9711, Faculté de Médecine Pitié Salpêtrière, 105 Boulevard de l Hôpital, 75013 Paris, France
    Am J Hum Genet 66:702-7. 2000
    ..By comparison with families having linkage to the major locus of pure autosomal dominant HSP (SPG4 on chromosome 2p), there were significantly more patients without Babinski signs, with increased reflexes in the ..
  92. ncbi SPG3A: An additional family carrying a new atlastin mutation
    A Tessa
    Molecular Medicine and Neurology, IRCCS Bambino Gesù Hospital, Rome, Italy
    Neurology 59:2002-5. 2002
    ..By combining direct testing of SPAST and SPG3A, at least 50% of ADHSP families can now receive appropriate genetic diagnosis.
  93. pmc A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members
    S H Mead
    MRC Prion Unit, Imperial College at St Mary s Hospital, Norfolk Place, London W2 1PG, UK
    J Neurol Neurosurg Psychiatry 71:788-91. 2001
    ..Genetic analysis of the family has shown linkage to chromosome 2p and sequencing of the spastin gene has identified a 1406delT frameshift mutation in exon 10...
  94. doi Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromes
    Frans Brugman
    Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, The Netherlands
    Arch Neurol 66:509-14. 2009
    ..Differentiation between these diseases is important for genetic counseling and prognostication...
  95. doi Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment
    Sophie Tezenas du Montcel
    AP HP, Department of Biostatistics and Medical Informatics, Pitié Salpêtrière Charles Foix Clinical Research Unit, University Pierre et Marie Curie, Paris, France
    Brain 131:1352-61. 2008
    ..Their CCFS scores remained significantly worse than those of ADSP patients with identified SPG4 mutations (P < 0.0001)...
  96. ncbi [The genetics of movement disorders--spinocerebellar degenerations]
    Chantal M E Tallaksen
    Nevrologisk avdeling, Ulleval universitetssykehus, 0407 Oslo
    Tidsskr Nor Laegeforen 124:2233-5. 2004
    ..In spite of the vast clinical and genetic heterogeneity, patterns of pathogenesis slowly emerge and help us understand these disorders...
  97. ncbi Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
    Alexandra Durr
    Département de génétique, cytogénétique et embryologie, and INSERM U289, Hôpital Salpêtrière AP HP, Paris, France
    Arch Neurol 61:1867-72. 2004
    ..The atlastin1 gene has recently been implicated in SPG3A, a form of autosomal dominant pure spastic paraplegia. Atlastin1 mutations have been identified in 8 families so far...
  98. pmc Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study
    J E Nielsen
    Institute of Medical Biochemistry and Genetics, Laboratory of Medical Genetics, University of Copenhagen, Denmark
    J Neurol Neurosurg Psychiatry 64:61-6. 1998
    ..three clinically indistinguishable but genetically different types of autosomal dominant pure spastic paraplegia (ADPSP) have been described...
  99. ncbi Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation
    J Del-Favero
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology VIB, University of Antwerp UIA, Antwerpen, Belgium
    Hum Genet 105:217-25. 1999
    ..Three distinct loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4) and 15q (SPG6)...
  100. ncbi Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutations
    P McMonagle
    Department of Neurology, St Vincent s University Hospital and Department of Pathology, University College Dublin and St Vincent s University Hospital, Dublin, Ireland
    Neurology 55:1794-800. 2000
    ..There are at least seven genetic loci with varying ages at onset and disability. The SPAST gene at the SPG4 locus on chromosome 2p is the major disease gene for AD-HSP.
  101. ncbi Investigation of mitochondrial function in hereditary spastic paraparesis
    C J McDermott
    Academic Neurology Unit, University of Sheffield, Medical School, Royal Hallamshire Hospital, UK
    Neuroreport 14:485-8. 2003
    ..Five cases of HSP caused by mutation in the spastin gene (SPG4) and nine cases with HSP with mutation in the spastin and paraplegin genes excluded (non-SPG4/SPG7), ..

Research Grants8

  1. GERARDO ANDRES MORFINI; Fiscal Year: 2014
    ..Among these, mutations in the SPG4 locus coding for the microtubule-severing protein spastin represent the most common cause of HSP...
  2. Genes and Genetic Models in Motor Neuron Disorders
    Teepu Siddique; Fiscal Year: 2007
    ..cause both recessive FALS (ALS2) and recessive juvenile PLS (JPLS1), on chromosome 2q33, studied mutations in SPASTIN that cause HSP (SPG5), and identified new loci for dominant ALS (on the X-chromosome) and ALS/dementia on ..
  3. MOLECULAR CLONING OF FAMILIAL SPASTIC PARAPLEGIA
    Eric Hoffman; Fiscal Year: 1999
    ..There is genetic heterogeneity in autosomal FSP, with autosomal dominant loci at 14q, 2p, and 15q (FSP1, FSP2, and FSP3 respectively) and an autosomal recessive locus at 8q...
  4. HEREDITARY SPASTIC PARAPLEGIA--CLINICAL, HISTOCHEMICAL,
    John Fink; Fiscal Year: 2001
    ..abstract_text> ..
  5. International Symposium for Hereditary Spastic Paraplegia
    John Fink; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  6. Hereditary Spastic Paraplegia due to SPG3A/atlastin mutation
    John Fink; Fiscal Year: 2009
    ..variation with discrete SPG3A mutations, Specific Aim 1 will assess benign polymorphisms in SPGSA/atlastin, SPG4/spastin, and other HSP genes as "candidate modifying factors"...