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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


GeneALS2
Other namesALSJ; PLSJ; IAHSP; ALS2CR6; FLJ31851; KIAA1563; MGC87187
Gene namealsin
Gene inheritance categoryFALS genes
CategoryREGENERATION, TROPHISM AND MOTONEURONAL DEATH
Chromosome2q33.2
Genomic CoordinatesChr2:202564986-202645895 ( -)
BackgroundCauses autosomal recessive juvenile ALS (ALS2).
ResultNo association with human ALS demonstrated/ replicated
Total Mutations27
Total Affected14
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
1401132120214

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ANIMAL MODELS

                               

KEY PUBLICATIONS (21)

First_AuthorYearTitlePaper
Al-Chalabi2003Variants in the ALS2 gene are not associated with sporadic amyotrophic lateral sclerosisFull_Paper
Brugman2007Adult-onset primary lateral sclerosis is not associated with mutations in the ALS2 geneFull_Paper
Devon2003The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblingsFull_Paper
Eymard-Pierre2002Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin geneFull_Paper
Gros-Louis2003An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani KindredFull_Paper
Hadano2001A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2Full_Paper
Hadano2001The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosisFull_Paper
Hadano2007Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degenerationFull_Paper
Hand2002A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18qFull_Paper
Hand2003Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosisFull_Paper
Hentati1994Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33q35Full_Paper
Hosler1998Refined mapping and characterization of the recessive familial amyotrophic lateral sclerosis locus (ALS2) on chromosome 2q33Full_Paper
Kress2005Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosisFull_Paper
Luigetti2013A novel compound heterozygous ALS2 mutation in two Italian siblings with juvenile amyotrophic lateral sclerosis Full_Paper
Nagano2003Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosisFull_Paper
Panzeri2006The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological functionFull_Paper
Sheerin2014ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystoniaFull_Paper
Shirakawa2009Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in JapanFull_Paper
Takahashi2008Development of a high-throughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosisFull_Paper
Verschuuren-Bemelmans2008Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern EuropeFull_Paper
Yang2001The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosisFull_Paper
 
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