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GENATLAS PHENOTYPE

last update : 13-06-2017

Symbol	AD6
Location	14q24.2
Name	Alzheimer disease 6
Other name(s)	Alzheimer disease 6, late onset
Corresponding gene	PSEN1
Main clinical features	late onset, independent to ApoE genotype
Genetic determination	multigenic
Function/system disorder	psychiatric disorder
Type	disease

Remark(s)

Genotype/Phenotype correlations

L435F mutation in early-onset familial Alzheimer disease characterized by deposition of cerebral cotton wool plaque, resides in a conserved C-terminal PAL sequence, mutation causing a nearly complete loss of gamma-secretase activity (PMID: 20460383))