KEGG   DISEASE: Progressive supranuclear palsy
Entry
H00077                      Disease                                

Name
Progressive supranuclear palsy;
Steele-Richardson-Olszewski syndrome
Description
Progressive supranuclear palsy (PSP) is a progressing degenerative disease belonging to the family of tauophaties caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an atypical parkinsonism characterized by progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia. Although the majority of cases of progressive supranuclear palsy appear to be sporadic, the scarcity of familial cases may lack of recognition of the variable phenotypic expression of PSP. One in every 100,000 Americans over the age of 60 have PSP and patients are usually middle-aged or elderly, and men are affected more often than women.
Category
Neurodegenerative disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Neurodegenerative diseases
   H00077  Progressive supranuclear palsy
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A00  Parkinsonism
    H00077  Progressive supranuclear palsy
Gene
MAPT; microtubule-associated protein tau (mutation) [HSA:4137] [KO:K04380]
Comment
Disease class: tauopathy
Affected region: basal ganglia, brain stem, cerebellum
Microscopic lesion: tau positive inclusions
Other DBs
ICD-11: 8A00.10
ICD-10: G23.1
MeSH: D013494
OMIM: 601104 260540
Reference
  Authors
Williams DR, Lees AJ
  Title
Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges.
  Journal
Lancet Neurol 8:270-9 (2009)
DOI:10.1016/S1474-4422(09)70042-0
Reference
  Authors
Houghton DJ, Litvan I
  Title
Unraveling progressive supranuclear palsy: from the bedside back to the bench.
  Journal
Parkinsonism Relat Disord 13 Suppl 3:S341-6 (2007)
DOI:10.1016/S1353-8020(08)70028-2
Reference
  Authors
Dickson DW, Rademakers R, Hutton ML.
  Title
Progressive supranuclear palsy: pathology and genetics.
  Journal
Brain Pathol 17:74-82 (2007)
DOI:10.1111/j.1750-3639.2007.00054.x
Reference
  Authors
Pastor P, Tolosa E
  Title
Progressive supranuclear palsy: clinical and genetic aspects.
  Journal
Curr Opin Neurol 15:429-37 (2002)
DOI:10.1097/00019052-200208000-00005
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