FRONTOTEMPORAL DEMENTIA

General Information (adopted from Orphanet):

Synonyms, Signs: FRONTOTEMPORAL DEMENTIA WITH PARKINSONISM
DEMENTIA, FRONTOTEMPORAL, WITH PARKINSONISM
DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX
FTLD WITH TAU INCLUSIONS
PALLIDOPONTONIGRAL DEGENERATION
FRONTOTEMPORAL LOBE DEMENTIA
FRONTOTEMPORAL DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS
PPND PICK COMPLEX, INCLUDED
FTDP17
FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS
MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA
WILHELMSEN-LYNCH DISEASE
FTD-ALS
DDPAC
FLDEM
FTD
WLD
MSTD
Number of Symptoms 25
OrphanetNr:
OMIM Id: 600274
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000737) Irritability 93 / 7739
2
(HPO:0001300) Parkinsonism 75 / 7739
3
(HPO:0000727) Frontal lobe dementia 6 / 7739
4
(HPO:0002145) Frontotemporal dementia 14 / 7739
5
(HPO:0002381) Aphasia 27 / 7739
6
(HPO:0007354) Amyotrophic lateral sclerosis 25 / 7739
7
(HPO:0002591) Polyphagia 25 / 7739
8
(HPO:0000734) Disinhibition 13 / 7739
9
(HPO:0002463) Language impairment 15 / 7739
10
(HPO:0008768) Inappropriate sexual behavior 1 / 7739
11
(HPO:0000741) Apathy 42 / 7739
12
(HPO:0000748) Inappropriate laughter 5 / 7739
13
(HPO:0000745) Diminished motivation 2 / 7739
14
(HPO:0002357) Dysphasia 33 / 7739
15
(HPO:0000751) Personality changes 33 / 7739
16
(HPO:0002476) Primitive reflex 9 / 7739
17
(HPO:0000710) Hyperorality 6 / 7739
18
(OMIM) Motor symptoms may be present 1 / 7739
19
(HPO:0002529) Neuronal loss in central nervous system 37 / 7739
20
(MedDRA:10066431) Kluver-Bucy syndrome 1 / 7739
21
(OMIM) Tau-positive inclusions may be found 1 / 7739
22
(OMIM) Ubiquitin-positive inclusions 1 / 7739
23
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
24
(OMIM) Cortical and subcortical neuronal loss in the frontal and temporal regions 1 / 7739
25
(OMIM) Decrease in abstract thinking 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Schmitt et al. (1984) reported a family in which 10 individuals had amyotrophic lateral sclerosis, parkinsonism-dementia or both. The proband was a 59-year-old man who died after a 14-year course of an illness characterized by progressive dementia, parkinsonism, ...
Genotype-Phenotype Correlations OMIM Among 22 patients with FTLD due to a MAPT mutation, Whitwell et al. (2009) found different patterns of gray matter atrophy using MRI voxel-based morphometry. All patients showed gray matter loss in the anterior temporal lobes, with varying ...
Molecular genetics OMIM - Mutations in the MAPT Gene

Hutton et al. (1998) sequenced the MAPT gene in 13 families with FTDP17 and identified 3 missense mutations (gly272 to val, 157140.0002; pro301 to leu, 157140.0001; and arg406 to trp, ...