Connexion

GENATLAS PHENOTYPE

last update : 13-06-2017

Symbol	FTLD
Location	14q24.2
Name	frontotemporal lobar degeneration
Other name(s)	dishinibition-dementia-parkinsonism-amyotrophy complex Wilhelmsen-Lynch disease
Corresponding gene	PSEN1
Main clinical features	characterized by behavioral and neuropsychologic features reflecting frontal lobe dysfunction, 'depression,' personality changes, and multiple physical complaints, including difficulty with walking.
Genetic determination	autosomal dominant
Related entries	AD3, AD6
Function/system disorder	neurology
Type	disease

Gene product

Name

presenilin 1

Remark(s)

. early onset Alzheimer disease is an allelic disorder

accumulation of TARDBP is a common process in certain neurodegenerative disorders (PMID: 17439983))

characterized primarily by cytoplasmic accumulation of TARDBP into round inclusions, skeins or threads that are associated with coincident nuclear clearing of TARDBP in neurons and glial cells, but nuclear inclusions also occur albeit less commonly (PMID: 19808791))

SAHA (suberoylanilide hydroxamic acid ) has demonstrated therapeutic potential in several neurodegenerative diseases and thus holds promise as a first generation drug for the prevention and treatment of frontotemporal dementia (PMID: 21454553))