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

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 pyr...

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Autori principali: Hampshire, D., Roberts, E., Crow, Y., Bond, J., Mubaidin, A., Wriekat, A., Al-Din, A., Woods, C
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2001
Soggetti:
Short Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734748/
https://ncbi.nlm.nih.gov/pubmed/11584046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.38.10.680
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