Kufor Rakeb disease : Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia
Identifieur interne : 001E10 ( PascalFrancis/Checkpoint ); précédent : 001E09; suivant : 001E11Kufor Rakeb disease : Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia
Auteurs : David R. Williams [Royaume-Uni] ; Ali Hadeed [Jordanie] ; Amir S. Najim Al-Din [Royaume-Uni] ; Abdel-Latif Wreikat [Jordanie] ; Andrew Lees (neurologue) [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2005.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Kufor Rakeb disease is an autosomal recessive disorder characterized by subacute, juvenile-onset, levodopa-responsive parkinsonism. pyramidal signs, dementia, and a supranuclear gaze palsy. It was originally described more than a decade ago. and linkage analysis identified a locus on chromosome 1p36 that was previously assigned PARK9. We have further characterized the clinical picture and specifically reassessed the response to levodopa in the original family, in the northern highlands of Jordan. In the 4 surviving patients, there has been a narrowing of the therapeutic window for levodopa with the emergence of peak-dose dyskinesias with increased spasticity and cognitive decline. Several new features were identified, including facial-faucial-finger mini-myoclonus. visual hallucinations, and oculogyric dystonic spasms.
Affiliations:
- Jordanie, Royaume-Uni
- Angleterre, Grand Londres
- Londres
- National Hospital for Neurology and Neurosurgery
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Williams</name></region><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Najim Al Din, Amir S" sort="Najim Al Din, Amir S" uniqKey="Najim Al Din A" first="Amir S." last="Najim Al-Din">Amir S. Najim Al-Din</name></country><country name="Jordanie"><noRegion><name sortKey="Hadeed, Ali" sort="Hadeed, Ali" uniqKey="Hadeed A" first="Ali" last="Hadeed">Ali Hadeed</name></noRegion><name sortKey="Wreikat, Abdel Latif" sort="Wreikat, Abdel Latif" uniqKey="Wreikat A" first="Abdel-Latif" last="Wreikat">Abdel-Latif Wreikat</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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