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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


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
 
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