Article
Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency.
European journal of medical genetics - 1 Jan 2000
Curie Aurore, Sacco Silvia, Bussy Gérald, de Saint Martin Anne, Boddaert Nathalie, Chanraud Sandra, Meresse Isabelle, Chelly Jamel, Zilbovicius Monica, des Portes Vincent
Abstract excerpt
BACKGROUND: Rab-GDI mutations are responsible for "pure" mental deficiency, without any specific clinical features or brain malformation. Therefore, screening for mutations in mentally retarded patients is not available on a routine basis. Moreover, neuronal networks involved in mental deficiency still remain largely unknown. METHODS: We performed a fine neuropsychological and imaging study in five patients from...
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