Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 26-10-2017
Symbol FTDALS4
Location 12q14.2
Name frontotemporal dementia and/or amyotrophic lateral sclerosis 4
Corresponding gene TBK1
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; mean age at onset was 60 years
  • cognitive impairment, often progressing to fulminant FTD; bulbar symptoms were reported in 87% of patients during the disease course
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease