Behavioural brain research.Behav Brain Res.2016 Feb 1;298(Pt B):188-91. doi: 10.1016/j.bbr.2015.11.008. Epub 2015 Nov 15.
Tetrabenazine (TBZ) is prescribed for the treatment of chorea associated with Huntington's disease. Via inhibition of the vesicular monoamine transporter (VMAT-2), TBZ blocks dopamine (DA) storage and depletes striatal DA; this drug also has been shown to induce Parkinsonian motor side effects in pa
This was an exploratory study comparing neuropsychological manifestations of Sydenham's chorea (SC), 6 months after initiation of treatment, in children who had received intravenous immunoglobulins as an adjunct to standard treatment, with those who had received standard treatment. We included a no
Neurology.Neurology.2016 Jan 19;86(3):241-4. doi: 10.1212/WNL.0000000000002300. Epub 2015 Dec 18.
OBJECTIVE: To describe a patient with cryopyrin-associated periodic syndrome (CAPS) with an uncommon neurologic phenotype and a rare underlying genetic mutation.RESULTS: Our patient had CAPS with a rare NLPR3 missense mutation (p.Tyr859Cys) in exon 6 with chorea as the major symptom. Clinical sympto
LESCH-NYHAN Syndrome and Disorder of Purine Metabolism
青木 継稔,有馬 正高
Ikagaku Shinpojumu 9(0), 6-10, 1970
… Recently, deficiency of an enzyme participating in purine metabolism, hypoxanthine-guanine phosphoribosyltransferase (HGPRT), has been demonstrated in children with cerebral dysfunction and hyperuricemia (Lesch-Nyhan syndrome). …
Summary of "Choreatic syndrome at 79 years old : Late manifestation of Huntington's chorea." No Summary Available Affiliation Neurologische Klinik, Klinikum Landshut, Robert-Koch Str. 1, 84034, Landshut, Deutschland. Journal ...
Article Two cases of choreatic syndrome caused by polycythemia vera. V Voiculescu V Voiculescu Remove suggestion D A Ionescu D A Ionescu Remove suggestion G Lazar G Lazar Remove suggestion C Alecu C Alecu ...