Frontotemporal dementia 1

Preferred Label : Frontotemporal dementia 1;

Symbol : FTD1;

CISMeF acronym : DDPAC; FLDEM; FTD; FTDP17; MSTD; PPND; WLD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Frontotemporal lobar degeneration with tau inclusions; Ftld with tau inclusions; Dementia, frontotemporal, with parkinsonism; Frontotemporal dementia with parkinsonism; Frontotemporal lobe dementia; Multiple system tauopathy with presenile dementia; Disinhibition-dementia-parkinsonism-amyotrophy complex; Wilhelmsen-lynch disease; Pallidopontonigral degeneration; FLDEM; FTDP17; MSTD; DDPAC; WLD; PPND;

Included titles and symbols : Pick complex;

Description : Frontotemporal dementia (FTD) refers to a clinical manifestation of the pathologic finding of frontotemporal lobar degeneration (FTLD). FTD, the most common subtype of FTLD, is a behavioral variant characterized by changes in social and personal conduct with loss of volition, executive dysfunction, loss of abstract thought, and decreased speech output. A second clinical subtype of FTLD is 'semantic dementia,' characterized by specific loss of comprehension of language and impaired facial and object recognition. A third clinical subtype of FTLD is 'primary progressive aphasia' (PPA), characterized by a reduction in speech production, speech errors, and word retrieval difficulties resulting in mutism and an inability to communicate. All subtypes have relative preservation of memory, at least in the early stages. FTLD is often associated with parkinsonism or motor neuron disease (MND) resembling amyotrophic lateral sclerosis (ALS; 105400) (reviews by Tolnay and Probst, 2002 and Mackenzie and Rademakers, 2007). Mackenzie et al. (2009, 2010) provided a classification of FTLD subtypes according to the neuropathologic findings (see PATHOGENESIS below). - Clinical Variability of Tauopathies Tauopathies comprise a clinically variable group of neurodegenerative diseases characterized neuropathologically by accumulation of abnormal;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the microtubule-associated tau protein gene (MAPT, 157140.0001); Caused by mutation in the presenilin-1 gene (PSEN1, 104311.0023);

Prefixed ID : #600274;

Details

Origin ID

600274;

UMLS CUI

C0338451;

Automatic exact mappings (from CISMeF team)
- Behavioral variant of frontotemporal dementia [ORDO Disease]
- C9orf72 wt Allele [NCIt concept]
- Frontotemporal dementia [ICD-10 Sub-category]
- Frontotemporal dementia [ICD-9 code]
- Frontotemporal dementia with parkinsonism [ICD-11 More detail]
- Frontotemporal dementia with parkinsonism-17 (disorder) [SNOMED CT concept]
- MAPT wt Allele [NCIt concept]
- Pallidopontonigral degeneration (disorder) [SNOMED CT concept]
- Progressive non-fluent aphasia [ORDO Disease]
- Semantic dementia [ORDO Disease]
- frontotemporal dementia with motor neuron disease [MeSH Supplementary Concept]
- microtubule associated protein tau [ORDO Gene]
- pallidopontonigral degeneration [MeSH concept]
- pallidopontonigral degeneration [MeSH Supplementary Concept]
- pallidopontonigral degeneration [SNOMED Notion]
- pick complex [MeSH concept]
- pick complex [MeSH Supplementary Concept]
- pick disease of the brain [MeSH Descriptor]
Currated CISMeF NLP mapping
- Frontotemporal Dementia [NCIt concept]
- Frontotemporal dementia [PASCAL descriptor]
- Frontotemporal dementia [ICD-11 Category]
- Frontotemporal dementia [HPO term]
- Frontotemporal dementia [MedDRA Preferred Term]
- Frontotemporal dementia [ORDO Disease]
- Frontotemporal dementia (disorder) [SNOMED CT concept]
- frontotemporal dementia [DO Concept]
- frontotemporal dementia [Disease (Nov.)]
- frontotemporal dementia [MeSH Descriptor]
- frontotemporal dementia [MeSH concept]
- frontotemporal dementia [Radlex concept]
DO Cross reference
- frontotemporal dementia [DO Concept]
Genes related to phenotype
- Microtubule-associated protein tau [OMIM gene]
- Presenilin 1 [OMIM gene]
HPO term(s)
- Amyotrophic lateral sclerosis [HPO term]
- Apathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Diminished motivation [HPO term]
- Disinhibition [HPO term]
- Frontal lobe dementia [HPO term]
- Frontotemporal dementia [HPO term]
- Heterogeneous [HPO term]
- Hyperorality [HPO term]
- Hyperphagia [HPO term]
- Inappropriate laughter [HPO term]
- Inappropriate sexual behavior [HPO term]
- Irritability [HPO term]
- Language impairment [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Parkinsonism [HPO term]
- Personality changes [HPO term]
- Polyphagia [HPO term]
- Primitive reflex [HPO term]
ORDO concept(s)
- Behavioral variant of frontotemporal dementia [ORDO Disease]
- Frontotemporal dementia [ORDO Disease]
- Frontotemporal dementia, right temporal atrophy variant [ORDO Disease]
- Progressive non-fluent aphasia [ORDO Disease]
- Semantic dementia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Frontotemporal Dementia [NCIt concept]
- Frontotemporal dementia [MedDRA Preferred Term]
- Frontotemporal dementia [ICD-9 code]
- Frontotemporal dementia [ORDO Disease]
- Frontotemporal dementia [ICD-10 Sub-category]
- Frontotemporal dementia [HPO term]
- Frontotemporal dementia [PASCAL descriptor]
- Frontotemporal dementia (disorder) [SNOMED CT concept]
- frontotemporal dementia [MeSH Descriptor]
- frontotemporal dementia [MeSH concept]
- frontotemporal dementia [Radlex concept]
- frontotemporal dementia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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