Article
Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.
Neurology - 28 Nov 2006
Le Ber I, Clot F, Vercueil L, Camuzat A, Viémont M, Benamar N, De Liège P, Ouvrard-Hernandez A M, Pollak P, Stevanin G, Brice A, Dürr A
Abstract excerpt
BACKGROUND: Dystonia syndromes constitute a heterogeneous group of phenotypes that may be caused by different heredodegenerative, metabolic, or genetic diseases. OBJECTIVE: To describe the characteristics of an unusual dystonia-plus phenotype associated with cerebellar atrophy. METHODS: We selected patients with predominant dystonia and cerebellar atrophy among the 861 families referred to us for genetic testing...
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