Progressive supranuclear palsy - parkinsonism

General Information (adopted from Orphanet):

Synonyms, Signs: STEELE-RICHARDSON-OLSZEWSKI SYNDROME, ATYPICAL, INCLUDED
PSP-parkinsonism
PSP-p
Number of Symptoms 10
OrphanetNr: 240085
OMIM Id: 260540
ICD-10: G23.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Atypical progressive supranuclear palsy
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000597) Ophthalmoparesis 71 / 7739
2
 (HPO:0001337) Tremor 200 / 7739
3
 (HPO:0002063) Rigidity 92 / 7739
4
 (HPO:0007256) Abnormal pyramidal signs 116 / 7739
5
 (HPO:0001300) Parkinsonism 75 / 7739
6
 (HPO:0000726) Dementia 131 / 7739
7
 (HPO:0002751) Kyphoscoliosis 131 / 7739
8
 (HPO:0002062) Morphological abnormality of the pyramidal tract 24 / 7739
9
 (HPO:0003581) Adult onset 117 / 7739
10
 (OMIM) Neurofibrillary degeneration of the hippocampus, basal ganglia and brainstem nuclei 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mata et al. (1983) described 2 brothers and a sister with a 'new' Parkinson-dementia syndrome. The disorder, characterized also by ophthalmoparesis and pyramidal signs, came on in the third decade and progressed for several years. Kyphoscoliosis was present ...
Molecular genetics OMIM In a Spanish patient with atypical supranuclear palsy born from a third-degree consanguineous marriage, Pastor et al. (2001) identified a homozygous deletion of asn296 in the MAPT gene (157140.0021). Two uncles, who were heterozygous for the mutation, developed ...