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

作者：D. J Hampshire, Emma Roberts, Yanick Crow, Jacquelyn Bond, Ammar Mubaidin, Abdul-Latif Wriekat, Amir Al-Din, C Geoffrey Woods · 发表于：Journal of Medical Genetics · 年份：2001 · DOI：10.1136/jmg.38.10.680 · 被引用次数：151 · 研究领域：Parkinson's Disease Mechanisms and Treatments、Neurological disorders and treatments、Genetic Neurodegenerative Diseases

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.