Preferred Label : Frontotemporal dementia 2;
Symbol : FTD2;
CISMeF acronym : FTLDU; HDDD; PPA;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Ftld-tdp, grn-related; Frontotemporal dementia with tdp43 inclusions, grn-related; Frontotemporal lobar degeneration with ubiquitin-positive inclusions; Frontotemporal dementia, ubiquitin-positive; Dementia, hereditary dysphasic disinhibition; FTLDU; FTDU; HDDD; Aphasia, primary progressive; Frontotemporal lobar degeneration with tdp43 inclusions, grn-related; PPA;
Description : Clinically, FTLD-TDP is a type of frontotemporal dementia (see FTD; 600274) which
shows variable phenotypic expression, but most commonly presents with social, behavioral,
or language deterioration, rather than memory or motor deficits. Other variations
of the phenotype have been referred to as 'dysphasic disinhibition dementia' and 'primary
progressive aphasia' (PPA) (Huey et al., 2006; Mukherjee et al., 2006; Mesulam et
al., 2007). Some patients may present with a clinical diagnosis of Alzheimer disease
(AD; 104300) or Parkinson disease (PD; 168600), which are part of the phenotypic spectrum
of this disorder (Brouwers et al., 2007). - Genetic Heterogeneity of FTLD-TDP The
specific presence of TDP43 (TARDBP; 605078)-positive inclusions on neuropathologic
examination defines a genetically heterogeneous group of dementias known collectively
as 'FTLD-TDP.' FTLD-TDP is a neuropathologic diagnosis; only about 20% of patients
with this neuropathologic diagnosis have GRN mutations (review by Van Deerlin et al.,
2010). TDP43-positive inclusions also occur in ALS10 (612069), caused by mutation
in the TARDBP gene (605078); IBMPFD (167320), caused by mutation in the VCP gene (601023);
and FTDALS (105550), caused by mutation in the C9ORF72 gene (614260). Mackenzie and
Rademakers (2007) provided a detailed review of the molecular genetics of FTLD, with
special emphasis on FTLDU. Cairns and Ghoshal (2010) reviewed the molecular pathology
and genetic heterogeneity of FTLD, including FLTD-TDP, and also noted the FTLDU is
now referred to as FTLD-TDP.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the granulin gene (GRN, 138945.0001);
Prefixed ID : #607485;
Origin ID : 607485;
UMLS CUI : C1843792;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
