PICK DISEASE OF BRAIN

General Information (adopted from Orphanet):

Synonyms, Signs: DEMENTIA WITH LOBAR ATROPHY AND NEURONAL CYTOPLASMIC INCLUSIONS
LOBAR ATROPHY OF BRAIN
Number of Symptoms 22
OrphanetNr:
OMIM Id: 172700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Sporadic
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002591) Polyphagia 25 / 7739
2
(HPO:0002463) Language impairment 15 / 7739
3
(HPO:0000737) Irritability 93 / 7739
4
(HPO:0002145) Frontotemporal dementia 14 / 7739
5
(HPO:0000733) Stereotypy 58 / 7739
6
(HPO:0002476) Primitive reflex 9 / 7739
7
(HPO:0000734) Disinhibition 13 / 7739
8
(HPO:0000751) Personality changes 33 / 7739
9
(HPO:0000741) Apathy 42 / 7739
10
(HPO:0000745) Diminished motivation 2 / 7739
11
(HPO:0000710) Hyperorality 6 / 7739
12
(HPO:0010529) Echolalia 20 / 7739
13
(HPO:0000748) Inappropriate laughter 5 / 7739
14
(HPO:0002529) Neuronal loss in central nervous system 37 / 7739
15
(OMIM) Emotional blunting 1 / 7739
16
(OMIM) Frontotemporal lobar atrophy with 'knife-edge' distinction 1 / 7739
17
(MedDRA:10034703) Perseveration 3 / 7739
18
(OMIM) Atrophy may be more severe in the left hemisphere 1 / 7739
19
(OMIM) Astrogliosis 3 / 7739
20
(OMIM) Swollen achromatic cells (Pick cells) 1 / 7739
21
(OMIM) Argyrophilic hyperphosphorylated tau-positive inclusions (Pick bodies) 1 / 7739
22
(OMIM) Pick bodies found in neocortical layers, granule cells of the dentate gyrus, and throughout the hippocampus 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Munoz-Garcia and Ludwin (1984) studied 6 sporadic cases of dementia with lobar atrophy and neuronal cytoplasmic inclusions. They recognized 2 types on the basis of involvement of subcortical structures, the distribution and the histochemical, immunochemical and ultrastructural characteristics ...
Molecular genetics OMIM Of 30 cases of pathologically confirmed Pick disease, Pickering-Brown et al. (2000) identified 2 mutations in the tau gene in 2 unrelated patients: G389R (157140.0011) and K257T (157140.0014). The patient with the G389R mutation showed a decline in ...