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Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36.

Hampshire D, Roberts E, Crow YJ, Bond J, Mubaidin A, Wriekat A, Al-Din A, Woods C

J Med Genet. 2001;38( 10):680-2.

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Abstract

Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson's disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor-Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6.

Bibliographic metadata

Type of resource:
Content type:
Publication type:
Published date:
Journal title:
ISSN:
Place of publication:
England
Volume:
38( 10)
Start page:
680
End page:
2
Pagination:
680-2
Access state:
Active

Institutional metadata

University researcher(s):

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:1d32013
Created:
2nd September, 2009, 14:14:25
Last modified:
3rd March, 2010, 18:56:01

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