Article
[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism.
Journal of the neurological sciences - 15 Oct 2008
Zanotti-Fregonara Paolo, Vidailhet Marie, Kas Aurélie, Ozelius Laurie J, Clot Fabienne, Hindié Elif, Ravasi Laura, Devaux Jean-Yves, Roze Emmanuel
Abstract excerpt
UNLABELLED: Rapid-onset dystonia-parkinsonism (RDP) is a rare, autosomal-dominantly inherited syndrome characterized by abrupt onset, over hours to days, of dystonic and parkinsonian symptoms. To date, RDP has been described in a small number of families, and in only four sporadic cases. METHODS: We here report a new sporadic case of RDP who has a novel de novo mutation in the ATP1A3 gene. Striatal dopamine...
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