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GENATLAS PHENOTYPE

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

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