Classical progressive supranuclear palsy

General Information (adopted from Orphanet):

Synonyms, Signs: Classical PSP
Steele-Richardson-Olszewski disease
Richardson syndrome
Number of Symptoms 29
OrphanetNr: 240071
OMIM Id: 601104
609454
610898
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: Progressive supranuclear palsy
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002544) Retrocollis 5 / 7739
2
(HPO:0000658) Eyelid apraxia 5 / 7739
3
(HPO:0000651) Diplopia 37 / 7739
4
(HPO:0000622) Blurred vision 14 / 7739
5
(HPO:0000605) Supranuclear gaze palsy 16 / 7739
6
(HPO:0000613) Photophobia 158 / 7739
7
(HPO:0001260) Dysarthria 329 / 7739
8
(HPO:0002067) Bradykinesia 62 / 7739
9
(HPO:0002354) Memory impairment 63 / 7739
10
(HPO:0002141) Gait imbalance 55 / 7739
11
(HPO:0002304) Akinesia 18 / 7739
12
(HPO:0000737) Irritability 93 / 7739
13
(HPO:0000741) Apathy 42 / 7739
14
(HPO:0002451) Limb dystonia 18% [HPO:probinson] 16 / 7739
15
(HPO:0002300) Mutism 28 / 7739
16
(HPO:0001337) Tremor 30% [HPO:probinson] 200 / 7739
17
(HPO:0002015) Dysphagia 301 / 7739
18
(HPO:0002439) Frontolimbic dementia 3 / 7739
19
(HPO:0002530) Axial dystonia 6 / 7739
20
(HPO:0002063) Rigidity 92 / 7739
21
(HPO:0002527) Falls 10 / 7739
22
(HPO:0000743) Frontal release signs 45% [HPO:probinson] 6 / 7739
23
(HPO:0001300) Parkinsonism 75 / 7739
24
(HPO:0002171) Gliosis 48 / 7739
25
(HPO:0003581) Adult onset 117 / 7739
26
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
27
(HPO:0002528) Granulovacuolar degeneration 3 / 7739
28
(HPO:0002529) Neuronal loss in central nervous system 37 / 7739
29
(HPO:0002185) Neurofibrillary tangles 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: