GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSETX
Other namesALS4; AOA2; SCAR1; FLJ12840; FLJ43459; KIAA0625; bA479K20.2; DKFZp781B151
Gene namesenataxin
Gene inheritanceFALS genes found in SALS
Discovery methodLinkage Analysis
CategoryALTERED DNA/RNA PROCESSING
Chromosome9q34.13
GRCh37 (hg19)Chr9:135136827-135230372 ( -)
GRCh38 (hg38)Chr9:132261440-132356726(-)
BackgroundMutations in SETX cause autosomal dominant juvenile ALS (ALS4)
ResultNew familial gene, not yet tested in sporadics
Mutations8
Patients65
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
5142718025191955

BIOINFORMATICS

Entrez Gene  UCSC Browser  Protein Structure  OMIM  Genecards  Full Literature  ProtScale  Sequence  Mutations  Uniprot
iHop  Pathway  GeneTest  ALS review  Mutation Google Map        Patients      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 ALS Data Browser

ANIMAL MODELS

                               

KEY PUBLICATIONS (8)

First_AuthorYearTitlePaper
Avemaria2011Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progressionFull_Paper
Chance1998Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34Full_Paper
Chen2004DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)Full_Paper
De Jonghe2002Autosomal dominant juvenile amyotrophic lateral sclerosis and distal hereditary motor neuronopathy with pyramidal tract signs: synonyms for the same disorder?Full_Paper
Hirano2010Senataxin mutations and amyotrophic lateral sclerosisFull_Paper
Rabin1998Autosomal dominant juvenile amyotrophic lateral sclerosisFull_Paper
Saracchi2014A novel heterozygous SETX mutation in a patient presenting with chorea and motor neuron diseaseFull_Paper
Zhao2009A novel mutation in the senataxin gene identified in a Chinese patient with sporadic amyotrophic lateral sclerosisFull_Paper