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

Entrez Gene  UCSC Browser  Protein Structure  OMIM  Genecards  Full Literature  ProtScale  Sequence    Uniprot
iHop  Pathway  GeneTest  ALS review                Neuromuscular  Animal models
GeneMANIA  AmiGO  Gene Wiki  Wolfram Alpha  Ensembl  NCBI  WikiGenes  Life Science DB(Japan)  ALSGene    GeneNetwork
Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB

TOP META-ANALYSIS RESULT FROM ALSGENE

For more details on this and other meta-analysis results in this region please visit the ALSGene database

ANIMAL MODELS

                               

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