KEGG DISEASE: Progressive supranuclear palsy

KEGG

DISEASE: Progressive supranuclear palsy

Entry

H00077                      Disease

Name

Progressive supranuclear palsy;
Steele-Richardson-Olszewski syndrome

Supergrp

Frontotemporal lobar degeneration [DS:H00078]

Description

Progressive supranuclear palsy (PSP) is a progressing degenerative disease belonging to the family of tauopathies 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 in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A00  Parkinsonism
    H00077  Progressive supranuclear palsy

Pathway

MAPK signaling pathway

Gene

(PSNP1) MAPT [HSA:4137] [KO:K04380]

Comment

Disease class: tauopathy
Affected region: basal ganglia, brain stem, cerebellum
Microscopic lesion: tau positive inclusions

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

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

Reference

PMID:9029080 (PSNP1)

Authors

Conrad C, Andreadis A, Trojanowski JQ, Dickson DW, Kang D, Chen X, Wiederholt W, Hansen L, Masliah E, Thal LJ, Katzman R, Xia Y, Saitoh T

Title

Genetic evidence for the involvement of tau in progressive supranuclear palsy.

Journal

Ann Neurol 41:277-81 (1997)
DOI:10.1002/ana.410410222

LinkDB

» Japanese version

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