MCID: PRG116
MIFTS: 22

Progressive Supranuclear Palsy-Corticobasal Syndrome

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Supranuclear Palsy-Corticobasal Syndrome

MalaCards integrated aliases for Progressive Supranuclear Palsy-Corticobasal Syndrome:

Name: Progressive Supranuclear Palsy-Corticobasal Syndrome 58
Psp-Corticobasal Syndrome 58
Psp-Cbs 58

Characteristics:

Orphanet epidemiological data:

58
progressive supranuclear palsy-corticobasal syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult; Age of death: elderly;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Progressive Supranuclear Palsy-Corticobasal Syndrome

MalaCards based summary : Progressive Supranuclear Palsy-Corticobasal Syndrome, also known as psp-corticobasal syndrome, is related to supranuclear palsy, progressive, 1 and corticobasal degeneration. An important gene associated with Progressive Supranuclear Palsy-Corticobasal Syndrome is MAPT (Microtubule Associated Protein Tau). Affiliated tissues include eye, and related phenotypes are bradykinesia and abnormal pyramidal sign

Related Diseases for Progressive Supranuclear Palsy-Corticobasal Syndrome

Diseases related to Progressive Supranuclear Palsy-Corticobasal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 13, show less)
# Related Disease Score Top Affiliating Genes
1 supranuclear palsy, progressive, 1 10.4
2 corticobasal degeneration 10.4
3 amyotrophic lateral sclerosis 1 10.0
4 fragile x tremor/ataxia syndrome 10.0
5 ataxia and polyneuropathy, adult-onset 10.0
6 fragile x-associated tremor/ataxia syndrome 10.0
7 apraxia 10.0
8 parkinsonism 10.0
9 lateral sclerosis 10.0
10 echolalia 10.0
11 dystonia 10.0
12 tremor 10.0
13 oculomotor apraxia 10.0

Graphical network of the top 20 diseases related to Progressive Supranuclear Palsy-Corticobasal Syndrome:



Diseases related to Progressive Supranuclear Palsy-Corticobasal Syndrome

Symptoms & Phenotypes for Progressive Supranuclear Palsy-Corticobasal Syndrome

Human phenotypes related to Progressive Supranuclear Palsy-Corticobasal Syndrome:

58 31 (showing 30, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 bradykinesia 58 31 obligate (100%) Obligate (100%) HP:0002067
2 abnormal pyramidal sign 58 31 hallmark (90%) Very frequent (99-80%) HP:0007256
3 postural instability 58 31 hallmark (90%) Very frequent (99-80%) HP:0002172
4 focal dystonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004373
5 limb apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0030217
6 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
7 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
8 mental deterioration 58 31 frequent (33%) Frequent (79-30%) HP:0001268
9 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
10 hand clenching 58 31 frequent (33%) Frequent (79-30%) HP:0001188
11 aphasia 58 31 frequent (33%) Frequent (79-30%) HP:0002381
12 sensory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0003474
13 frequent falls 58 31 frequent (33%) Frequent (79-30%) HP:0002359
14 vertical supranuclear gaze palsy 58 31 frequent (33%) Frequent (79-30%) HP:0000511
15 limb myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0045084
16 progressive extrapyramidal muscular rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0007158
17 diminished movement 58 31 frequent (33%) Frequent (79-30%) HP:0002374
18 slowed horizontal saccades 58 31 frequent (33%) Frequent (79-30%) HP:0007885
19 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
20 personality changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000751
21 speech articulation difficulties 58 31 occasional (7.5%) Occasional (29-5%) HP:0009088
22 jerky head movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0006961
23 parkinsonism with favorable response to dopaminergic medication 58 31 occasional (7.5%) Occasional (29-5%) HP:0002548
24 respiratory distress 58 31 very rare (1%) Very rare (<4-1%) HP:0002098
25 involuntary movements 58 Frequent (79-30%)
26 rigidity 58 Frequent (79-30%)
27 apraxia 58 Very frequent (99-80%)
28 slow saccadic eye movements 58 Very frequent (99-80%)
29 abnormal saccadic eye movements 58 Frequent (79-30%)
30 frontal release signs 58 Excluded (0%)

Drugs & Therapeutics for Progressive Supranuclear Palsy-Corticobasal Syndrome

Search Clinical Trials , NIH Clinical Center for Progressive Supranuclear Palsy-Corticobasal Syndrome

Genetic Tests for Progressive Supranuclear Palsy-Corticobasal Syndrome

Anatomical Context for Progressive Supranuclear Palsy-Corticobasal Syndrome

MalaCards organs/tissues related to Progressive Supranuclear Palsy-Corticobasal Syndrome:

40
Eye

Publications for Progressive Supranuclear Palsy-Corticobasal Syndrome

Articles related to Progressive Supranuclear Palsy-Corticobasal Syndrome:

(showing 28, show less)
# Title Authors PMID Year
1
Association of PSP phenotypes with survival: A brain-bank study. 61
33581485 2021
2
Early-phase [18F]PI-2620 tau-PET imaging as a surrogate marker of neuronal injury. 61
32318783 2020
3
Blood neurofilament light chain in Parkinson disease and atypical parkinsonisms: A protocol for systematic review and meta-analysis. 61
33019386 2020
4
Diagnostic experience reported by caregivers of patients with frontotemporal degeneration. 61
32983609 2020
5
Serum neuronal exosomes predict and differentiate Parkinson's disease from atypical parkinsonism. 61
32273329 2020
6
Comparing two facets of emotion perception across multiple neurodegenerative diseases. 61
32363385 2020
7
Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome. 61
31860007 2020
8
Neuropathology of Lewy body disease: Clinicopathological crosstalk between typical and atypical cases. 61
31498507 2020
9
P301 L, an FTDP-17 Mutant, Exhibits Enhanced Glycation in vitro. 61
32250308 2020
10
Brain volume and flortaucipir analysis of progressive supranuclear palsy clinical variants. 61
31935638 2020
11
[Contemporary approaches to clinical diagnosis and treatment of tau-protein accumulation related multisystem degenerations]. 61
33205927 2020
12
Tau PET imaging in neurodegenerative tauopathies-still a challenge. 61
30635637 2019
13
Vestibular symptoms as the presenting feature of progressive supranuclear palsy. 61
29398194 2018
14
Differential diagnosis of parkinsonian syndromes using dopamine transporter and perfusion SPECT. 61
29157745 2018
15
Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy. 61
30158953 2018
16
Free and Cued Selective Reminding Test - accuracy for the differential diagnosis of Alzheimer's and neurodegenerative diseases: A large-scale biomarker-characterized monocenter cohort study (ClinAD). 61
28222300 2017
17
"Atypical" atypical parkinsonism: Critical appraisal of a cohort. 61
28236526 2017
18
Blood-based NfL: A biomarker for differential diagnosis of parkinsonian disorder. 61
28179466 2017
19
GBA-associated parkinsonism and dementia: beyond α-synucleinopathies? 61
26549049 2016
20
Tau imaging in the study of ageing, Alzheimer's disease, and other neurodegenerative conditions. 61
26397020 2016
21
Untangling tau imaging. 61
27489878 2016
22
Tau imaging: early progress and future directions. 61
25496902 2015
23
Family history of frontotemporal lobar degeneration in Asia--an international multi-center research. 61
24759627 2014
24
High prevalence of NMDA receptor IgA/IgM antibodies in different dementia types. 61
25493273 2014
25
Overlapping MRI findings in progressive supranuclear palsy - corticobasal syndrome. 61
25054994 2014
26
C9orf72 repeat expansions are restricted to the ALS-FTD spectrum. 61
24169076 2014
27
Neuroanatomical correlates of the progressive supranuclear palsy corticobasal syndrome hybrid. 61
22519566 2012
28
Post mortem cerebrospinal fluid α-synuclein levels are raised in multiple system atrophy and distinguish this from the other α-synucleinopathies, Parkinson's disease and Dementia with Lewy bodies. 61
21856424 2012

Variations for Progressive Supranuclear Palsy-Corticobasal Syndrome

Expression for Progressive Supranuclear Palsy-Corticobasal Syndrome

Search GEO for disease gene expression data for Progressive Supranuclear Palsy-Corticobasal Syndrome.

Pathways for Progressive Supranuclear Palsy-Corticobasal Syndrome

GO Terms for Progressive Supranuclear Palsy-Corticobasal Syndrome

Sources for Progressive Supranuclear Palsy-Corticobasal 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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