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ALSoD is a joint project of World Federation of Neurology and European Network to Cure ALS. The work leading to these results has received funding from the European Community’s Health Seventh Framework Programme FP7/2007-2013 under grant agreement number 259867.
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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
Genomic CoordinatesChr2:32288680-32382706 ( +)
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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ANIMAL MODELS

                               
ALSGene: A database for amyotrophic lateral sclerosis genetic association studies developed by the Max Planck Institute for Molecular Genetics Berlin, the Alzheimer Research Forum and Prize4Life.  Last Update: 14th August 2011

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
 
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