OpenAIRE is about to release its new face with lots of new content and services.
During September, you may notice downtime in services, while some functionalities (e.g. user registration, login, validation, claiming) will be temporarily disabled.
We apologize for the inconvenience, please stay tuned!
For further information please contact helpdesk[at]openaire.eu

fbtwitterlinkedinvimeoflicker grey 14rssslideshare1
Hampshire, D.J.; Roberts, E.; Crow, Y.; Bond, J.; Mubaidin, A.; Wriekat, A.L.; Al-Din, A.; Woods, C.G. (2001)
Languages: English
Types: Article
Subjects:

Classified by OpenAIRE into

mesheuropmc: nervous system diseases
Kufor-Rakeb syndrome is an autosomal\ud recessive nigro-striatal-pallidal-pyramidal\ud neurodegeneration. The onset is in the\ud teenage years with clinical features of Parkinson’s\ud disease plus spasticity, supranuclear\ud upgaze paresis, and dementia. Brain\ud scans show atrophy of the globus pallidus\ud and pyramids and, later, widespread cerebral\ud atrophy. We report linkage in Kufor-\ud Rakeb syndrome to a 9 cM region of\ud chromosome 1p36 delineated by the markers\ud D1S436 and D1S2843, with a maximum\ud multipoint lod score of 3.6.\ud (J Med Genet 2001;38:680–682)

Share - Bookmark

Cite this article

Cookies make it easier for us to provide you with our services. With the usage of our services you permit us to use cookies.
More information Ok