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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-10-2016
Symbol FTDALS3
Location 5q35.3
Name frontotemporal dementia and/or amyotrophic lateral sclerosis 3
Corresponding gene SQSTM1
Main clinical features
  • neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs
  • progressive muscle weakness and atrophy, hyporeflexia, dysarthria, bulbar weakness, fasciculations, and hyperreflexia.; electromyography showed fibrillations, suggesting active denervation
  • also speech apraxia, visuoconstructional defects, executive dysfunction, and behavioral disorders with onset between 70 and 75 years of age
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease