Genomes and Genes
Gene Symbol: SPAST
Alias: ADPSP, FSP2, SPG4, spastin, spastic paraplegia 4 (autosomal dominant; spastin), spastic paraplegia 4 protein
Publications155 found, 100 shown here
- Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutationF 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...
- Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegiaA K Erichsen
Department of Neurology, Ulleval University Hospital, Oslo, Norway
Eur J Neurol 14:809-14. 2007To 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 ..
- 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..mutations in atlastin-1 (also known as SPG3A), receptor expression enhancing protein 1 (REEP1; SPG31), or spastin (SPG4)...
- Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegiaR 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 ..
- 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. 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 ..
- Spectrum of SPG4 mutations in autosomal dominant spastic paraplegiaN 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...
- Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesisJ 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. 2000Hereditary 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.
- 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. 2001..It is caused by mutations in the gene encoding spastin, a member of the AAA family of ATPases...
- 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. 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...
- Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegiaInge 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.
- 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..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...
- 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..It is caused by mutations in the SPG4 gene encoding spastin, a member of the AAA protein family of ATPases...
- 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...
- 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..has revealed the presence of a sequence domain of approximately 80 amino acids in two molecules, spartin and spastin, mutated in hereditary spastic paraplegia...
- The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin geneStephen 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...
- Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutationChristopher J McDermott
Academic Neurology Unit, University of Sheffield, Beech Hill Road, Sheffield S10 2RX, United Kingdom
Ann Neurol 54:748-59. 2003The commonest cause of hereditary spastic paraplegia (HSP) is mutation in the spastin gene...
- Infantile hereditary spastic paraparesis due to codominant mutations in the spastin geneP F Chinnery
Department of Neurology, The University of Newcastle upon Tyne, UK
Neurology 63:710-2. 2004The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene...
- The hereditary spastic paraplegia protein spastin interacts with the ESCRT-III complex-associated endosomal protein CHMP1BEvan 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...
- 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. 2005Mutations 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 ..
- Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegiaIngrid 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...
- Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleusPamela Claudiani
Telethon Institute of Genetics and Medicine TIGEM, Via P Castellino 111, 80131 Naples, Italy
Exp Cell Res 309:358-69. 2005Most cases of autosomal-dominant hereditary spastic paraplegia are linked to mutations in SPG4 encoding spastin, a protein involved in microtubule dynamics and membrane trafficking...
- 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..inherited in an autosomal-dominant pattern and are commonly caused by mutations either in the SPG4 gene spastin or in the SPG3A gene atlastin...
- Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum proteinAshraf U Mannan
Institute of Human Genetics, University of Goettingen, Heinrich Dueker Weg 12, Goettingen 37073, Germany
Neurogenetics 7:93-103. 2006b>Spastin, an ATPase belonging to the AAA family of proteins is most commonly mutated in autosomal dominant hereditary spastic paraplegias (HSP)...
- 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 epilepsyDong 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 ..
- High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegiaC 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.
- 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.
- 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. 2007b>Spastin, an AAA ATPase mutated in the neurodegenerative disease hereditary spastic paraplegia, severs microtubules...
- 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. 2007b>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...
- 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. 2008b>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 ..
- A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoformGiuseppe 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...
- Structural basis for midbody targeting of spastin by the ESCRT-III protein CHMP1BDong 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...
- Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretionJames W Connell
Department of Medical Genetics and Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
Traffic 10:42-56. 2009Mutations 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...
- Pleiotropic effects of spastin on neurite growth depending on expression levelsElena 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...
- 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..In addition, we demonstrate that two other members of the endosomal group of HSP proteins, spastin and spartin, are inhibitors of BMP signalling...
- 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. 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 ..
- 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. 2010In 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.
- SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesisBenoît 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...
- Cortical constriction during abscission involves helices of ESCRT-III-dependent filamentsJulien 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...
- Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12Gladys 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...
- A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutationsGreger 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 ..
- Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegiaKyle 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) ..
- Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neuronsSteven 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...
- Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus SPG4 affects almost exclusively males in a large pedigreeA Starling
J Med Genet 39:e77. 2002
- Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) geneC 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...
- Novel spastin mutations and their expression analysis in two Italian familiesAnnamaria Molon
Department of Neurosciences, University of Padua, Via Giustiniani 5, 35128 Padua, Italy
Eur J Hum Genet 11:710-3. 2003Mutations 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...
- Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegiaBeisha 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 ..
- Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutationsIngrid 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...
- Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axonAlessia 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...
- Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutationsClarice 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...
- Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial casesC Depienne
J Med Genet 43:259-65. 2006SPG4 encodes spastin, a member of the AAA protein family, and is the major gene responsible for autosomal dominant spastic paraplegia...
- Human spastin has multiple microtubule-related functionsSara 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)...
- Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenanceKatia 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...
- ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegiaAshraf U Mannan
Institute of Human Genetics, University of Goettingen, Heinrich Dueker Weg 12, D 37073, Goettingen, Germany
Am J Hum Genet 79:351-7. 2006b>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 ..
- Novel SPG3A and SPG4 mutations in dominant spastic paraplegia familiesJ 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...
- 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. 2009The SPAST gene encoding for spastin plays a central role in the genetically heterogeneous group of diseases termed hereditary spastic paraplegia (HSP)...
- The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in EstoniaMark 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.
- Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutationsC Scuderi
Unità Operativa di Malattie Neuromuscolari, IRCCS Oasi Maria SS, Troina, EN, Italy
J Neurol Neurosurg Psychiatry 80:440-3. 2009Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic hereditary paraparesis...
- Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegiaKirsten 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...
- Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegiaAngela Magariello
Institute of Neurological Sciences, National Research Council, 87050 Mangone, Cosenza, Italy
J Neurol Sci 288:96-100. 2010Mutations 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...
- Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangementsMark 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.
- Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegiaD 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 ..
- Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegiaVictoria 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.
- 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. 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...
- Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutationJ 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 ..
- 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. 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...
- Hereditary spastic paraplegia 3A associated with axonal neuropathyNeviana 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...
- Hereditary spastic paraplegiasK 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...
- Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3AAnnette 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...
- Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese familyK 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 ..
- Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegiaJoanna M Solowska
Department of Neurobiology and Anatomy, Drexel University College of Medicine, Philadelphia, Pennsylvania 19129, USA
J Neurosci 28:2147-57. 2008b>Spastin and P60-katanin are two distinct microtubule-severing proteins...
- Chinese patients with Machado-Joseph disease presenting with complicated hereditary spastic paraplegiaS 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...
- Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detectionJørgen 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. 2004To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP).
- An atypical intronic deletion widens the spectrum of mutations in hereditary spastic paraplegiaJ 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...
- Drosophila spastin regulates synaptic microtubule networks and is required for normal motor functionNina 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...
- The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryoJonathan 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 ..
- 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. 2008Mutations 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)...
- Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST geneBo 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 ..
- A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjectsTobias 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...
- Genetic and chemical modulation of spastin-dependent axon outgrowth in zebrafish embryos indicates a role for impaired microtubule dynamics in hereditary spastic paraplegiaRichard 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. 2010Mutations in the SPAST (SPG4) gene, which encodes the microtubule-severing protein spastin, are the most common cause of autosomal dominant hereditary spastic paraplegia (HSP)...
- The C. elegans homologue of the spastic paraplegia protein, spastin, disassembles microtubulesYuka 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. 2007Mutations in human spastin (SPG4) cause an autosomal dominant form of hereditary spastic paraplegia...
- 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...
- A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegiaGuo 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...
- [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...
- Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegiaX 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...
- Identification of the Drosophila melanogaster homolog of the human spastin geneLars Kammermeier
Institute of Zoology, Biozentrum Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland
Dev Genes Evol 213:412-5. 2003The 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...
- Spastin and microtubules: Functions in health and diseaseSara Salinas
Molecular Neuropathobiology, Cancer Research United Kingdom London Research Institute, Lincoln s Inn Fields Laboratories, London, UK
J Neurosci Res 85:2778-82. 2007SPG4, 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)...
- A novel splicing mutation (c.870+3A>G) in SPG4 in a Korean family with hereditary spastic paraplegiaJae 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.
- Specific pattern of early white-matter changes in pure hereditary spastic paraplegiaThomas 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 ..
- 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. 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...
- [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 ..
- A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34B 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 ..
- SPG3A: An additional family carrying a new atlastin mutationA 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.
- 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 membersS 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...
- Differentiation of hereditary spastic paraparesis from primary lateral sclerosis in sporadic adult-onset upper motor neuron syndromesFrans 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...
- Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairmentSophie 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)...
- [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...
- Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegiaAlexandra 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...
- Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic studyJ 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...
- Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentationJ 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)...
- Phenotype of AD-HSP due to mutations in the SPAST gene: comparison with AD-HSP without mutationsP 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.
- Investigation of mitochondrial function in hereditary spastic paraparesisC 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), ..
- 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...
- Genes and Genetic Models in Motor Neuron DisordersTeepu 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 ..
- MOLECULAR CLONING OF FAMILIAL SPASTIC PARAPLEGIAEric 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...
- HEREDITARY SPASTIC PARAPLEGIA--CLINICAL, HISTOCHEMICAL,John Fink; Fiscal Year: 2001..abstract_text> ..
- International Symposium for Hereditary Spastic ParaplegiaJohn Fink; Fiscal Year: 2007..unreadable] [unreadable] [unreadable]..
- Hereditary Spastic Paraplegia due to SPG3A/atlastin mutationJohn 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"...