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PARDE
MCID: PRK087
MIFTS: 33

Parkinson-Dementia Syndrome (PARDE)

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

Aliases & Classifications for Parkinson-Dementia Syndrome

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MalaCards integrated aliases for Parkinson-Dementia Syndrome:

Name: Parkinson-Dementia Syndrome 56 73 29 6 39
Supranuclear Palsy, Progressive, 1, Atypical 6 71
Supranuclear Palsy, Progressive Atypical 56 13
Progressive Supranuclear Palsy Atypical 74 52
Progressive Supranuclear Palsy-Parkinsonism Syndrome 58
Atypical Progressive Supranuclear Palsy Syndrome 58
Steele-Richardson-Olszewski Syndrome Atypical 73
Supranuclear Palsy Progressive 1 Atypical 73
Atypical Psp Syndrome 58
Psp-Parkinsonism 58
Atypical Psp 52
Psp-P 58
Parde 73

Characteristics:

Orphanet epidemiological data:

58
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:

56
Inheritance:
autosomal recessive vs. dominant with low penetrance and expression


HPO:

31
parkinson-dementia syndrome:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
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: 32 33
Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Sources

Summaries for Parkinson-Dementia Syndrome

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UniProtKB/Swiss-Prot : 73 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 helix syndrome and vascular disease. An important gene associated with Parkinson-Dementia Syndrome is MAPT (Microtubule Associated Protein Tau). Affiliated tissues include eye, brain and globus pallidus, and related phenotypes are parkinsonism and vertical supranuclear gaze palsy

Wikipedia : 74 Progressive supranuclear palsy (PSP) is a degenerative disease involving the gradual deterioration and... more...

More information 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:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 helix syndrome 10.4
2 vascular disease 10.3
3 supranuclear palsy, progressive, 1 10.2
4 dementia 10.2
5 multiple system atrophy 1 10.2
6 pulmonary hypertension 10.2
7 respiratory failure 10.2
8 subacute delirium 10.2
9 48,xyyy 10.2
10 adult acute respiratory distress syndrome 10.2
11 ataxia and polyneuropathy, adult-onset 10.0
12 aphasia 10.0
13 speech disorder 10.0
14 multiple system atrophy, parkinsonian type 10.0
15 autonomic dysfunction 10.0
16 tremor 10.0
17 amyotrophic lateral sclerosis 1 10.0
18 parkinson disease, late-onset 10.0
19 apraxia 10.0
20 lateral sclerosis 10.0
21 movement disease 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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Human phenotypes related to Parkinson-Dementia Syndrome:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 parkinsonism 58 31 obligate (100%) Obligate (100%) HP:0001300
2 vertical supranuclear gaze palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000511
3 postural instability 58 31 hallmark (90%) Very frequent (99-80%) HP:0002172
4 parkinsonism with favorable response to dopaminergic medication 58 31 hallmark (90%) Very frequent (99-80%) HP:0002548
5 abnormal saccadic eye movements 31 hallmark (90%) HP:0000570
6 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
7 tremor 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001337
8 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
9 kyphoscoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002751
10 dysgraphia 58 31 frequent (33%) Frequent (79-30%) HP:0010526
11 mental deterioration 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0001268
12 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
13 ophthalmoparesis 58 31 frequent (33%) Frequent (79-30%) HP:0000597
14 blepharospasm 58 31 frequent (33%) Frequent (79-30%) HP:0000643
15 speech apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0011098
16 rigidity 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002063
17 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
18 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
19 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
20 extrapyramidal muscular rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0007076
21 speech articulation difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0009088
22 bradykinesia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002067
23 falls 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002527
24 tremor by anatomical site 58 31 frequent (33%) Frequent (79-30%) HP:0030188
25 fixed facial expression 58 31 frequent (33%) Frequent (79-30%) HP:0005329
26 freezing of gait 58 31 frequent (33%) Frequent (79-30%) HP:0031825
27 downgaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0025330
28 axial muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0006921
29 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
30 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
31 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
32 dyslexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010522
33 respiratory distress 58 31 occasional (7.5%) Occasional (29-5%) HP:0002098
34 hyperactive deep tendon reflexes 58 31 occasional (7.5%) Occasional (29-5%) HP:0006801
35 apathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000741
36 functional motor deficit 58 31 occasional (7.5%) Occasional (29-5%) HP:0004302
37 grammar-specific speech disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0006977
38 inappropriate behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000719
39 impaired visuospatial constructive cognition 58 31 occasional (7.5%) Occasional (29-5%) HP:0010794
40 neuromuscular dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002068
41 anxiety 58 Excluded (0%)
42 abnormality of eye movement 58 Frequent (79-30%),Frequent (79-30%)
43 abnormality of saccadic eye movements 58 Very frequent (99-80%)
44 focal dystonia 58 Occasional (29-5%)
45 morphological abnormality of the pyramidal tract 31 HP:0002062

Symptoms via clinical synopsis from OMIM:

56
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
Sources

Drugs & Therapeutics for Parkinson-Dementia Syndrome

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Search Clinical Trials , 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:

40
Eye, Brain, Globus Pallidus
Sources

Publications for Parkinson-Dementia Syndrome

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Articles related to Parkinson-Dementia Syndrome:

(show all 11)
# Title Authors PMID Year
1
Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene. 56 6
14991829 2004
2
Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. 6 56
11220749 2001
3
New form of familial Parkinson-dementia syndrome: clinical and pathologic findings. 61 56
6685236 1983
4
Tau gene delN296 mutation, Parkinson's disease, and atypical supranuclear palsy. 6
14991828 2004
5
Functional effects of tau gene mutations deltaN296 and N296H. 6
11906000 2002
6
Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. 6
10612815 2000
7
Simultaneous Stimulation of the Globus Pallidus Interna and the Nucleus Basalis of Meynert in the Parkinson-Dementia Syndrome. 61
30630160 2019
8
Cognitive and behavioral disorders in Parkinson's disease: an update. I: cognitive impairments. 61
29043468 2018
9
Changes in apraxia after deep brain stimulation of the nucleus basalis Meynert in a patient with Parkinson dementia syndrome. 61
20629167 2010
10
Cognitive functions in a patient with Parkinson-dementia syndrome undergoing deep brain stimulation. 61
19506141 2009
11
New form of familial Parkinson-dementia syndrome and progressive supranuclear palsy. 61
6493510 1984
Sources

Variations for Parkinson-Dementia Syndrome

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ClinVar genetic disease variations for Parkinson-Dementia Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAPT NM_016835.4(MAPT):c.1853C>T (p.Pro618Leu)SNV Pathogenic 14245 rs63751273 17:44087755-44087755 17:46010389-46010389
2 MAPT NM_016835.4(MAPT):c.2167C>T (p.Arg723Trp)SNV Pathogenic 14247 rs63750424 17:44101427-44101427 17:46024061-46024061
3 MAPT NM_016835.4(MAPT):c.1788T>G (p.Asn596Lys)SNV Pathogenic 14253 rs63750756 17:44087690-44087690 17:46010324-46010324
4 MAPT NM_016835.4(MAPT):c.1835_1837ATA[1] (p.Asn613del)short repeat Pathogenic,risk factor 98243 rs63751392 17:44087737-44087739 17:46010371-46010373
5 MAPT NM_016835.4(MAPT):c.890C>T (p.Ala297Val)SNV Uncertain significance 429936 rs377402921 17:44061060-44061060 17:45983694-45983694
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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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