GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneVAPB
Other namesALS8; VAP-B; VAP-C; VAMP-B; VAMP-C:
Gene nameVAMP (vesicle-associated membrane protein)-associated protein B and C
Gene inheritance categoryFALS genes
CategoryALTERED AXONAL TRANSPORT AND VESICLE TRAFFICKING
Chromosome20q13.33
Genomic CoordinatesChr20:56964175-57026157 ( +)
BackgroundMutations in VAPB cause an autosomal dominant, slowly progressive ALS (ALS8)
ResultNew familial gene, not yet tested in SALS.
Total Mutations2
Total Affected19
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
1902101924419

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ANIMAL MODELS

                               

KEY PUBLICATIONS (9)

First_AuthorYearTitlePaper
Chen2010Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosisFull_Paper
Conforti2006Sporadic ALS is not associated with VAPB gene mutations in Southern ItalyFull_Paper
Funke2010The p.P56S mutation in the VAPB gene is not due to a single founder: the first European caseFull_Paper
Kirby2007Mutations in VAPB are not associated with sporadic ALSFull_Paper
Landers2008New VAPB deletion variant and exclusion of VAPB mutations in familial ALSFull_Paper
Marques2006Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomiaFull_Paper
Millecamps2010SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlationsFull_Paper
Nishimura2004A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosisFull_Paper
Nishimura 2004A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13Full_Paper