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GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSPAST
Other namesFSP2; SPG4; ADPSP; KIAA1083
Gene namespastin
Gene inheritance categorySALS genes
CategoryNEUROFILAMENTS, CYTOSKELETON AND MICROTUBULE DEFECTS
Chromosome2p24
BackgroundMutations in spastin and paraplegin are the most common causes of hereditary spastic paraparesis
ResultOne case reported of young onset, slowly progressive upper and lower motor neuron syndrome with spastin mutation. No association with paraplegin
Total Mutations0
Total Affected0

BIOINFORMATICS

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KEY PUBLICATIONS (3)

First_AuthorYearTitlePaper
Chen2006Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron diseaseFull_Paper
McDermott2003Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND)Full_Paper
Meyer2005Early-onset ALS with long-term survival associated with spastin gene mutationFull_Paper

GENETIC VARIATIONS

SNP (rs)BasepairpvalueAuthorYearTermPaper
 32289294 Meyer2005GRCh37Early-onset ALS with long-term survival associated with spastin gene mutation
        
 
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