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

D J Hampshire; E Roberts; Y Crow; J Bond; A Mubaidin; A L Wriekat; A Al-Din; C G Woods

doi:10.1136/jmg.38.10.680

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

J Med Genet. 2001 Oct;38(10):680-2. doi: 10.1136/jmg.38.10.680.

Authors

D J Hampshire¹, E Roberts, Y Crow, J Bond, A Mubaidin, A L Wriekat, A Al-Din, C G Woods

Affiliation

¹ Molecular Medicine Unit, University of Leeds, Clinical Sciences Building, St James's University Hospital, Leeds LS9 7TF, UK.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Mapping
Chromosomes, Human, Pair 1 / genetics*
Dementia / complications
Dementia / genetics*
Dementia / pathology
Endopeptidases / genetics
Female
Gene Frequency / genetics
Haplotypes / genetics
Humans
Lod Score
Male
Microsatellite Repeats / genetics
Paresis / complications
Paresis / genetics*
Paresis / pathology
Parkinson Disease / complications
Parkinson Disease / genetics*
Parkinson Disease / pathology
Pedigree
Syndrome
Ubiquitin-Specific Proteases

Substances

Endopeptidases
Ubiquitin-Specific Proteases