Pick disease of brain

Preferred Label : Pick disease of brain;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Dementia with lobar atrophy and neuronal cytoplasmic inclusions; Lobar atrophy of brain;

Description : Pick disease refers to the neuropathologic finding of 'Pick bodies,' which are argyrophilic, intraneuronal inclusions, and 'Pick cells,' which are enlarged neurons. The clinical correlates of Pick disease of brain include those of frontotemporal dementia, which encompass the behavioral variant of FTD, semantic dementia, and progressive nonfluent aphasia (summary by Piguet et al., 2011). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of FTD, primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy (601104), and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' should be restricted to the pathologic finding of Pick bodies.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the microtubule-associated tau protein gene (MAPT, 157140.0011); Caused by mutation in the presenilin-1 gene (PSEN1, 104311.0027);

Prefixed ID : #172700;

Details

Origin ID

172700;

UMLS CUI

C0236642;

Automatic exact mappings (from CISMeF team)
- Behavioral variant of frontotemporal dementia [ORDO Disease]
- Frontotemporal dementia (disorder) [SNOMED CT concept]
- Progressive non-fluent aphasia [ORDO Disease]
- Semantic dementia [ORDO Disease]
Currated CISMeF NLP mapping
- Circumscribed brain atrophy [ICD-10 Sub-category (who)]
- Dementia due to Pick's disease [MedDRA LLT]
- Dementia in Picks disease [ICD-10 Sub-category (who)]
- Frontotemporal dementia [ICD-9 code]
- Pick disease [PASCAL descriptor]
- Pick disease [Disease (Nov.)]
- Pick disease [Radlex concept]
- Pick's Disease [NCIt concept]
- Pick's disease [DO Concept]
- Pick's disease [MedDRA LLT]
- Pick's disease (disorder) [Inactive SNOMED CT concept]
- pick disease of the brain [MeSH Descriptor]
- pick disease of the brain [MeSH concept]
- pick's disease [SNOMED Notion]
DO Cross reference
- Pick's disease [DO Concept]
Genes related to phenotype
- Microtubule-associated protein tau [OMIM gene]
- Presenilin 1 [OMIM gene]
HPO term(s)
- Apathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Diminished motivation [HPO term]
- Disinhibition [HPO term]
- Echolalia [HPO term]
- Emotional blunting [HPO term]
- Frontotemporal dementia [HPO term]
- Gliosis [HPO term]
- Hyperorality [HPO term]
- Hyperphagia [HPO term]
- Inappropriate laughter [HPO term]
- Irritability [HPO term]
- Isolated cases [HPO term]
- Language impairment [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Perseveration [HPO term]
- Personality changes [HPO term]
- Polyphagia [HPO term]
- Primitive reflex [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Behavioral variant of frontotemporal dementia [ORDO Disease]
- Frontotemporal dementia [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)
- Circumscribed cerebral atrophy [MedDRA LLT]
- Dementia in Picks disease [ICD-10 Sub-category (who)]
- Pick disease [Radlex concept]
- Pick disease [PASCAL descriptor]
- Pick's Disease [NCIt concept]
- Pick's disease [MedDRA LLT]
- Pick's disease [DO Concept]
- Pick's disease [ICD-9 code]
- Pick's disease (disorder) [Inactive SNOMED CT concept]
- pick disease of the brain [MeSH Descriptor]
- pick disease of the brain [MeSH concept]
- pick's disease [SNOMED Notion]

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