GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneSPG11
Other namesFLJ21439; KIAA1840; DKFZp762B1512
Gene nameSpatacsin
Gene inheritanceFALS genes found in SALS
Discovery methodLinkage Analysis
Category 
Chromosome15q14
GRCh37 (hg19)Chr15:44854894-44955876 ( -)
GRCh38 (hg38)Chr15:44562696-44663678(-)
BackgroundDefects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene.
Result 
Mutations14
Patients30
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
3001515151501630

BIOINFORMATICS

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ANIMAL MODELS

                               

KEY PUBLICATIONS (3)

First_AuthorYearTitlePaper
Daoud2012Exome sequencing reveals SPG11 mutations causing juvenile ALSFull_Paper
Orlacchio2010SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosisFull_Paper
Özoguz2015The distinct genetic pattern of ALS in Turkey and novel mutationsFull_Paper