MCID: PRK087
MIFTS: 29

Parkinson-Dementia Syndrome

Categories: Genetic diseases, Rare diseases, Mental diseases, Neuronal diseases, Eye diseases

Aliases & Classifications for Parkinson-Dementia Syndrome

MalaCards integrated aliases for Parkinson-Dementia Syndrome:

Name: Parkinson-Dementia Syndrome 57 75 29 40
Supranuclear Palsy, Progressive, 1, Atypical 6 73
Supranuclear Palsy, Progressive Atypical 57 13
Progressive Supranuclear Palsy Atypical 76 53
Progressive Supranuclear Palsy-Parkinsonism Syndrome 59
Atypical Progressive Supranuclear Palsy Syndrome 59
Steele-Richardson-Olszewski Syndrome Atypical 75
Supranuclear Palsy Progressive 1 Atypical 75
Atypical Psp Syndrome 59
Psp-Parkinsonism 59
Atypical Psp 53
Psp-P 59
Parde 75

Characteristics:

Orphanet epidemiological data:

59
progressive supranuclear palsy-parkinsonism syndrome
Inheritance: Not applicable; Age of onset: Adult; Age of death: elderly;
atypical progressive supranuclear palsy syndrome
Prevalence: 1-9/100000 (Europe);

OMIM:

57
Inheritance:
autosomal recessive vs. dominant with low penetrance and expression


HPO:

32
parkinson-dementia syndrome:
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 57 260540
ICD10 via Orphanet 34 G23.1
MESH via Orphanet 45 C537240
UMLS via Orphanet 74 C1850077
MeSH 44 D013494
ICD10 33 F02.3
UMLS 73 C1850077

Summaries for Parkinson-Dementia Syndrome

UniProtKB/Swiss-Prot : 75 Parkinson-dementia syndrome: A syndrome characterized by parkinsonism, tremor, rigidity, dementia, ophthalmoparesis and pyramidal signs. Neurofibrillary degeneration occurs in the hippocampus, basal ganglia and brainstem nuclei.

MalaCards based summary : Parkinson-Dementia Syndrome, also known as supranuclear palsy, progressive, 1, atypical, is related to dementia and supranuclear palsy, progressive, 1. An important gene associated with Parkinson-Dementia Syndrome is MAPT (Microtubule Associated Protein Tau). The drugs Fluorides and Radiopharmaceuticals have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are ophthalmoparesis and dementia

Wikipedia : 76 Progressive supranuclear palsy (PSP; or the Steele–Richardson–Olszewski syndrome, after the doctors who... more...

Description from OMIM: 260540

Related Diseases for Parkinson-Dementia Syndrome

Diseases related to Parkinson-Dementia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dementia 10.1
2 supranuclear palsy, progressive, 1 9.8
3 apraxia 9.8
4 classic progressive supranuclear palsy syndrome 9.8

Symptoms & Phenotypes for Parkinson-Dementia Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neuro:
parkinsonism
tremor
rigidity
dementia
ophthalmoparesis
more
Misc:
onset in third decade

Skel:
kyphoscoliosis

Lab:
neurofibrillary degeneration of the hippocampus, basal ganglia and brainstem nuclei


Clinical features from OMIM:

260540

Human phenotypes related to Parkinson-Dementia Syndrome:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 ophthalmoparesis 32 HP:0000597
2 dementia 32 HP:0000726
3 parkinsonism 32 HP:0001300
4 tremor 32 HP:0001337
5 morphological abnormality of the pyramidal tract 32 HP:0002062
6 rigidity 32 HP:0002063
7 kyphoscoliosis 32 HP:0002751
8 abnormal pyramidal signs 32 HP:0007256

Drugs & Therapeutics for Parkinson-Dementia Syndrome

Drugs for Parkinson-Dementia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fluorides Early Phase 1
2 Radiopharmaceuticals Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Predictive and Diagnostic Value of Tau and Beta-amyloid Markers in the Dementia of Parkinson's Disease Completed NCT02243982 Early Phase 1
2 The Swedish BioFINDER 2 Study Recruiting NCT03174938 Not Applicable

Search NIH Clinical Center for Parkinson-Dementia Syndrome

Genetic Tests for Parkinson-Dementia Syndrome

Genetic tests related to Parkinson-Dementia Syndrome:

# Genetic test Affiliating Genes
1 Parkinson-Dementia Syndrome 29 MAPT

Anatomical Context for Parkinson-Dementia Syndrome

MalaCards organs/tissues related to Parkinson-Dementia Syndrome:

41
Eye, Brain

Publications for Parkinson-Dementia Syndrome

Articles related to Parkinson-Dementia Syndrome:

# Title Authors Year
1
Changes in apraxia after deep brain stimulation of the nucleus basalis Meynert in a patient with Parkinson dementia syndrome. ( 20629167 )
2010
2
Cognitive functions in a patient with Parkinson-dementia syndrome undergoing deep brain stimulation. ( 19506141 )
2009
3
New form of familial Parkinson-dementia syndrome and progressive supranuclear palsy. ( 6493510 )
1984
4
New form of familial Parkinson-dementia syndrome: clinical and pathologic findings. ( 6685236 )
1983

Variations for Parkinson-Dementia Syndrome

ClinVar genetic disease variations for Parkinson-Dementia Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAPT NM_016835.4(MAPT): c.1838_1840delATA (p.Asn613del) deletion Pathogenic,risk factor rs63751392 GRCh37 Chromosome 17, 44087740: 44087742
2 MAPT NM_016835.4(MAPT): c.1838_1840delATA (p.Asn613del) deletion Pathogenic,risk factor rs63751392 GRCh38 Chromosome 17, 46010374: 46010376

Expression for Parkinson-Dementia Syndrome

Search GEO for disease gene expression data for Parkinson-Dementia Syndrome.

Pathways for Parkinson-Dementia Syndrome

GO Terms for Parkinson-Dementia Syndrome

Sources for Parkinson-Dementia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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