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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-07-2017
Symbol ALS14
Location 9p13.3
Name amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
Corresponding gene VCP
Main clinical features
  • fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure
  • may be associated with frontotemporal dementia (FTD)
  • Genetic determination autosomal dominant
    Prevalence VCP mutations arise in approximately 1.5p 100 of FALS cases (PMID: 23152587)
    Function/system disorder neuromuscular
    Type disease