title: Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin.
abstract: Juvenile onset ALS is a very rare form of motor neuron disease, with the first symptoms of motor neuron degeneration manifested before 25 years of age. Mutations in the alsin (ALS2), senataxin (SETX), and spatacsin (SPG11) genes have been associated with familial ALS with juvenile onset and slow progression, whereas the genetic architecture of sporadic juvenile ALS remains unclear. We screened mutations in C9orf72, SOD1, FUS, TARDBP, ANG, VCP and PFN1 in 16 juvenile sporadic ALS patients. Four cases (25%) carrying FUS mutations and one individual (6%) harbouring a SOD1 mutation were identified. All cases had an aggressive disease course. Our results suggest that FUS mutations are the most frequent genetic cause in early-onset sporadic ALS patients of Chinese origin. Genetic testing of FUS should be performed in early-onset ALS patients especially those with an aggressive disease course.
authors.affiliation: a Department of Neurology , Fujian Medical University Union Hospital , Fuzhou and.|b Department of Neurology , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing , China.
authors.forename: Zhang-Yu
authors.initials: ZY
authors.lastname: Zou
authors.affiliation: b Department of Neurology , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing , China.
authors.forename: Ming-Sheng
authors.initials: MS
authors.lastname: Liu
authors.affiliation: b Department of Neurology , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing , China.
authors.forename: Xiao-Guang
authors.initials: XG
authors.lastname: Li
authors.affiliation: b Department of Neurology , Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College , Beijing , China.
authors.forename: Li-Ying
authors.initials: LY
authors.lastname: Cui
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D018797:Cell Cycle Proteins / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D051304:Profilins / Q000235:genetics; D034702:RNA-Binding Protein FUS / Q000235:genetics*; D012259:Ribonuclease, Pancreatic / Q000235:genetics; D000072105:Superoxide Dismutase-1 / Q000235:genetics; D000074405:Valosin Containing Protein; D055815:Young Adult
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C458481:GLIPR2 protein, human; D008565:Membrane Proteins; C495738:PFN1 protein, human; D051304:Profilins; D034702:RNA-Binding Protein FUS; C000606290:SOD1 protein, human; C000598624:TARDBP protein, human; D000072105:Superoxide Dismutase-1; C046366:angiogenin; D012259:Ribonuclease, Pancreatic; D000251:Adenosine Triphosphatases; C000614178:VCP protein, human; D000074405:Valosin Containing Protein
keywords: Amyotrophic lateral sclerosis; FUS; SOD1; juvenile onset