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PARDE
MCID: PRK087
MIFTS: 31

Parkinson-Dementia Syndrome (PARDE)

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Parkinson-Dementia Syndrome

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Mental diseases Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)
ICD10: 34 33
Orphanet: 59  
Rare neurological diseases
Rare eye diseases


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
Sources

Summaries for Parkinson-Dementia Syndrome

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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 ocular palsy. An important gene associated with Parkinson-Dementia Syndrome is MAPT (Microtubule Associated Protein Tau). The drugs Radiopharmaceuticals and Fluorides have been mentioned in the context of this disorder. Affiliated tissues include eye and brain, and related phenotypes are tremor and ophthalmoparesis

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

Description from OMIM: 260540
Sources

Related Diseases for Parkinson-Dementia Syndrome

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

# Related Disease Score Top Affiliating Genes
1 dementia 10.3
2 supranuclear ocular palsy 10.1
3 platelet aggregation, spontaneous 10.0
4 retinitis pigmentosa 4 10.0
5 pemphigus foliaceus 10.0
6 acute respiratory distress syndrome 10.0
7 paraneoplastic neurologic disorders 10.0
8 supranuclear palsy, progressive, 1 10.0
9 apraxia 10.0

Graphical network of the top 20 diseases related to Parkinson-Dementia Syndrome:



Diseases related to Parkinson-Dementia Syndrome
Sources

Symptoms & Phenotypes for Parkinson-Dementia Syndrome

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Symptoms via clinical synopsis from OMIM:

57
Neuro:
tremor
ophthalmoparesis
rigidity
dementia
parkinsonism
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 tremor 32 HP:0001337
2 ophthalmoparesis 32 HP:0000597
3 rigidity 32 HP:0002063
4 dementia 32 HP:0000726
5 kyphoscoliosis 32 HP:0002751
6 parkinsonism 32 HP:0001300
7 morphological abnormality of the pyramidal tract 32 HP:0002062
8 abnormal pyramidal sign 32 HP:0007256
Sources

Drugs & Therapeutics for Parkinson-Dementia Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Radiopharmaceuticals Early Phase 1
2 Fluorides 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
3 Alzheimer's Autism and Cognitive Impairment Stem Cell Treatment Study Recruiting NCT03724136 Not Applicable

Search NIH Clinical Center for Parkinson-Dementia Syndrome

Sources

Genetic Tests for Parkinson-Dementia Syndrome

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Genetic tests related to Parkinson-Dementia Syndrome:

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

Anatomical Context for Parkinson-Dementia Syndrome

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MalaCards organs/tissues related to Parkinson-Dementia Syndrome:

41
Eye, Brain
Sources

Publications for Parkinson-Dementia Syndrome

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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
Sources

Variations for Parkinson-Dementia Syndrome

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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
Sources

Expression for Parkinson-Dementia Syndrome

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

Pathways for Parkinson-Dementia Syndrome

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Sources

GO Terms for Parkinson-Dementia Syndrome

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Sources

Sources for Parkinson-Dementia Syndrome

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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