Supranuclear palsy, progressive, 1

Preferred Label : Supranuclear palsy, progressive, 1;

Symbol : PSNP1;

CISMeF acronym : PSNP1; PSP;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PSP; Steele-richardson-olszewski syndrome;

Description : Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level (Baker et al., 1999). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; 600274), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (172700) should be restricted to the pathologic finding of Pick bodies. - Genetic Heterogeneity of Progressive Supranuclear Palsy Other loci for PSP have been mapped to chromosome 1q31 (PSNP2; 609454) and 11p12-p11 (PSNP3; 610898). See also Parkinson-dementia syndrome, atypical progressive supranuclear palsy (260540).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the microtubule-associated protein tau gene (MAPT, 157140.0019);

Prefixed ID : #601104;

Details

Origin ID

601104;

UMLS CUI

C4551863;

Automatic exact mappings (from CISMeF team)
- CHGA wt Allele [NCIt concept]
- Chromogranin-A [NCIt concept]
- Classic progressive supranuclear palsy syndrome [ORDO Disease]
- MSMB wt Allele [NCIt concept]
- PSPN wt Allele [NCIt concept]
- Persephin [NCIt concept]
- REG1A wt Allele [NCIt concept]
- Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) [ORDO Gene]
- microseminoprotein beta [ORDO Gene]
Broader ORDO disease(s)
- Progressive supranuclear palsy [ORDO Disease]
Currated CISMeF NLP mapping
- Progressive Supranuclear Palsy [NCIt concept]
- Progressive supranuclear ophthalmoplegia [ICD-10 Sub-category (who)]
- Progressive supranuclear ophthalmoplegia (disorder) [SNOMED CT concept]
- Progressive supranuclear ophthalmoplegia [Steele-Richardson-Olszewski] [ICD-10 Sub-category]
- Progressive supranuclear palsy [MedDRA Preferred Term]
- Progressive supranuclear palsy [ORDO Disease]
- Steele-Richardson-Olszewski syndrome [MedDRA LLT]
- progressive supranuclear ophthalmoplegia [SNOMED Notion]
- progressive supranuclear palsy [Disease (Nov.)]
- progressive supranuclear palsy [Radlex concept]
- progressive supranuclear palsy [DO Concept]
- progressive supranuclear palsy [MedlinePlus Topic]
- supranuclear palsy, progressive [MeSH Descriptor]
- supranuclear palsy, progressive [MeSH concept]
DO Cross reference
- progressive supranuclear palsy [DO Concept]
Genes related to phenotype
- Microtubule-associated protein tau [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Akinesia [HPO term]
- Apathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axial dystonia [HPO term]
- Blurred vision [HPO term]
- Bradykinesia [HPO term]
- Diplopia [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Eyelid apraxia [HPO term]
- Falls [HPO term]
- Forgetfulness [HPO term]
- Frontal release signs [HPO term]
- Frontolimbic dementia [HPO term]
- Gait imbalance [HPO term]
- Gliosis [HPO term]
- Granulovacuolar degeneration [HPO term]
- Heterogeneous [HPO term]
- Irritability [HPO term]
- Isolated cases [HPO term]
- Limb dystonia [HPO term]
- Memory impairment [HPO term]
- Mutism [HPO term]
- Neurofibrillary tangles [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in basal ganglia [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Parkinsonism [HPO term]
- Photophobia [HPO term]
- Poor mobility [HPO term]
- Retrocollis [HPO term]
- Rigidity [HPO term]
- Supranuclear gaze palsy [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Classic progressive supranuclear palsy syndrome [ORDO Disease]
- Progressive supranuclear palsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic progressive supranuclear palsy syndrome [ORDO Disease]
- Progressive Supranuclear Palsy [NCIt concept]
- Progressive supranuclear ophthalmoplegia [ICD-10 Sub-category (who)]
- Progressive supranuclear palsy [MedDRA Preferred Term]
- Progressive supranuclear palsy [ORDO Disease]
- Steele-Richardson-Olszewski syndrome [MedDRA LLT]
- progressive supranuclear ophthalmoplegia [SNOMED Notion]
- progressive supranuclear palsy [MedlinePlus Topic]
- progressive supranuclear palsy [Radlex concept]
- progressive supranuclear palsy [DO Concept]
- supranuclear palsy, progressive [MeSH Descriptor]
- supranuclear palsy, progressive [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients