PARDE
MCID: PRK087
MIFTS: 35

Parkinson-Dementia Syndrome (PARDE)

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

Aliases & Classifications for Parkinson-Dementia Syndrome

MalaCards integrated aliases for Parkinson-Dementia Syndrome:

Name: Parkinson-Dementia Syndrome 57 73 29 6 39
Supranuclear Palsy, Progressive Atypical 57 13
Progressive Supranuclear Palsy Atypical 74 20
Progressive Supranuclear Palsy-Parkinsonism Syndrome 58
Atypical Progressive Supranuclear Palsy Syndrome 58
Steele-Richardson-Olszewski Syndrome Atypical 73
Supranuclear Palsy, Progressive, 1, Atypical 71
Supranuclear Palsy Progressive 1 Atypical 73
Atypical Psp Syndrome 58
Psp-Parkinsonism 58
Atypical Psp 20
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®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive vs. dominant with low penetrance and expression


HPO:

31
parkinson-dementia syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset young adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Parkinson-Dementia Syndrome

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 atypical, is related to supranuclear palsy, progressive, 1 and dementia. An important gene associated with Parkinson-Dementia Syndrome is MAPT (Microtubule Associated Protein Tau). The drugs Riluzole and Anticonvulsants have been mentioned in the context of this disorder. 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 late-onset degenerative disease involving the gradual... more...

More information 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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 10.1
2 dementia 10.1
3 multiple system atrophy 1 10.1
4 helix syndrome 10.0
5 apraxia 9.9
6 mild cognitive impairment 9.9
7 parkinsonism 9.9
8 movement disease 9.9
9 vascular parkinsonism 9.9
10 autonomic dysfunction 9.9
11 tremor 9.9
12 multiple system atrophy, parkinsonian type 9.9

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



Diseases related to Parkinson-Dementia Syndrome

Symptoms & Phenotypes for Parkinson-Dementia Syndrome

Human phenotypes related to Parkinson-Dementia Syndrome:

58 31 (show all 44)
# 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 abnormal saccadic eye movements 58 31 hallmark (90%) Very frequent (99-80%) HP:0000570
5 parkinsonism with favorable response to dopaminergic medication 58 31 hallmark (90%) Very frequent (99-80%) HP:0002548
6 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
7 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
8 tremor 58 31 frequent (33%) Occasional (29-5%),Frequent (79-30%) HP:0001337
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 rigidity 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002063
16 oculomotor apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0000657
17 dementia 58 31 frequent (33%) Frequent (79-30%) HP:0000726
18 unsteady gait 58 31 frequent (33%) Frequent (79-30%) HP:0002317
19 speech apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0011098
20 extrapyramidal muscular rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0007076
21 bradykinesia 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002067
22 falls 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0002527
23 speech articulation difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0009088
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 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
31 dyslexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010522
32 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
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 abnormality of eye movement 58 Frequent (79-30%),Frequent (79-30%)
42 anxiety 58 Excluded (0%)
43 focal dystonia 58 Occasional (29-5%)
44 morphological abnormality of the pyramidal tract 31 HP:0002062

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Parkinson-Dementia Syndrome

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riluzole Approved, Investigational Phase 3 1744-22-5 5070
2 Anticonvulsants Phase 3
3 Neurotransmitter Agents Phase 3
4 Excitatory Amino Acid Antagonists Phase 3
5 Protective Agents Phase 3
6 Neuroprotective Agents Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 3 Study of Riluzole in Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP) (Parkinson's Plus Syndromes) Terminated NCT00211224 Phase 3 Riluzole

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:

40
Eye, Brain, Globus Pallidus

Publications for Parkinson-Dementia Syndrome

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. 6 57
14991829 2004
2
Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene. 57 6
11220749 2001
3
New form of familial Parkinson-dementia syndrome: clinical and pathologic findings. 57 61
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

Variations for Parkinson-Dementia Syndrome

ClinVar genetic disease variations for Parkinson-Dementia Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAPT NM_016841.5(MAPT):c.649-3869_649-3867del Microsatellite Pathogenic 98243 rs63751392 17:44087737-44087739 17:46010371-46010373
2 MAPT NM_005910.5(MAPT):c.837T>G (p.Asn279Lys) SNV Pathogenic 14253 rs63750756 17:44087690-44087690 17:46010324-46010324
3 MAPT NM_005910.5(MAPT):c.902C>T (p.Pro301Leu) SNV Pathogenic 14245 rs63751273 17:44087755-44087755 17:46010389-46010389
4 MAPT NM_005910.5(MAPT):c.1216C>T (p.Arg406Trp) SNV Pathogenic 14247 rs63750424 17:44101427-44101427 17:46024061-46024061
5 MAPT NM_005910.5(MAPT):c.374-3346C>T SNV Uncertain significance 429936 rs377402921 17:44061060-44061060 17:45983694-45983694

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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