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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-12-2012
Symbol ALS15
Location Xp11.21
Name amyotrophic lateral sclerosis 15, with or without frontotemporal dementia
Corresponding gene UBQLN2
Main clinical features
  • neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis
  • age of onset of disease ranged from 15 to 70 years
  • associated to dementia in any patients, similar to frontotemporal lobar type
  • transmitted in a dominant fashion with reduced penetrance in females
  • Genetic determination autosomal dominant
    sex linked
    Function/system disorder neurology
    Type disease
  • mutations in ubiquilin 2 lead to ubiquitin-mediated impairment of proteasomal degradation (PMID: 21857683))