SUPRANUCLEAR PALSY, PROGRESSIVE, 1

General Information (adopted from Orphanet):

Synonyms, Signs: STEELE-RICHARDSON-OLSZEWSKI SYNDROME
PSNP1
PSP
Number of Symptoms 30
OrphanetNr:
OMIM Id: 601104
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

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:0000613) Photophobia 158 / 7739
5
(HPO:0000622) Blurred vision 14 / 7739
6
(HPO:0000605) Supranuclear gaze palsy 16 / 7739
7
(HPO:0002141) Gait imbalance 55 / 7739
8
(HPO:0001300) Parkinsonism 75 / 7739
9
(HPO:0000741) Apathy 42 / 7739
10
(HPO:0002015) Dysphagia 301 / 7739
11
(HPO:0002530) Axial dystonia 6 / 7739
12
(HPO:0000743) Frontal release signs 6 / 7739
13
(HPO:0002354) Memory impairment 63 / 7739
14
(HPO:0002300) Mutism 28 / 7739
15
(HPO:0002451) Limb dystonia 16 / 7739
16
(HPO:0002063) Rigidity 92 / 7739
17
(HPO:0002527) Falls 10 / 7739
18
(HPO:0001260) Dysarthria 329 / 7739
19
(HPO:0000737) Irritability 93 / 7739
20
(HPO:0002304) Akinesia 18 / 7739
21
(HPO:0002439) Frontolimbic dementia 3 / 7739
22
(HPO:0002067) Bradykinesia 62 / 7739
23
(HPO:0001337) Tremor 200 / 7739
24
(OMIM) Poor mobility 2 / 7739
25
(OMIM) Tau-immunoreactive inclusions in neurons and astrocytes 1 / 7739
26
(HPO:0002528) Granulovacuolar degeneration 3 / 7739
27
(HPO:0002171) Gliosis 48 / 7739
28
(HPO:0002185) Neurofibrillary tangles 14 / 7739
29
(OMIM) Tau inclusions are 'flame-shaped' or 'tuft-like' 1 / 7739
30
(OMIM) Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Rojo et al. (1999) reported 12 pedigrees of familial progressive supranuclear palsy, confirmed by pathology in 4 probands. Pathologic diagnosis was confirmed by internationally agreed criteria. The spectrum of the clinical phenotypes in these families was variable, including ...
Molecular genetics OMIM Conrad et al. (1997) demonstrated an association between progressive supranuclear palsy and a dinucleotide (TG) polymorphic repeat between exons 9 and 10 of the microtubule-associated protein tau gene (MAPT; 157140). This association was subsequently confirmed by several other ...