Mutation in 5′ Upstream Region of GCHI Gene Causes Familial Dopa-Responsive Dystonia

June 2011 in “ Movement Disorders ”

Nutan Sharma, Ioanna A. Armata, Trisha Multhaupt‐Buell, Laurie J. Ozelius, Winnie Xin, Katherine B. Sims

GCHI gene dopa-responsive dystonia DRD carbidopa levodopa ropinirole GTP cyclohydrolase I Sinemet Requip

Studysummary A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

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