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GENATLAS PHENOTYPE
last update : 17-09-2010
Symbol FTD3
Location 3p11.2
Name frontotemporal dementia, chromosome 3-linked
Other name(s) dementia, familial nonspecific
Corresponding gene CHMP2B
Other symbol(s) DMT1, DEM
Main clinical features
  • age at onset between 46 and 65 years, with a predominantly frontal lobe syndrome but there is also evidence for temporal and dominant parietal lobe dysfunction at autopsy, brain tissue had amyloid-containing neuritic plaques, but no fibrillary tangles
  • behaviour and personality changes are predominant with language dysfunction, and behavioural changes occurring later in the disease course
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name chromatin modifying protein 2B
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function a tranversion mutation, in the conserved acceptor splice site of exon 6, causing a disruption oin the endosomal pathway, mutant accumulated on the outer membrane of the large aberrant bodies
    Remark(s) . CHMP2B mutants disrupt a late stage of endosomal trafficking: the fusion of endosomes with lysosomes, while protein sorting into intraluminal vesicles is intact (PMID: 20223751))
  • 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))
  • Genotype/Phenotype correlations missense mutation in exon 5 of CHMP2B (Asn143Ser) in a famille with cortical basal degeneration