Article
Polysomnographic and neurometabolic features may mark preclinical autosomal dominant cerebellar ataxia, deafness, and narcolepsy due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1.
Sleep medicine - 1 May 2014
Moghadam Keivan Kaveh, Pizza Fabio, Tonon Caterina, Lodi Raffaele, Carelli Valerio, Poli Francesca, Franceschini Christian, Barboni Piero, Seri Marco, Ferrari Simona, La Morgia Chiara, Testa Claudia, Cornelio Ferdinando, Liguori Rocco, Winkelmann Juliane, Lin Ling, Mignot Emmanuel, Plazzi Giuseppe
Abstract excerpt
OBJECTIVE: We aimed to report the clinical picture of two asymptomatic daughters of a patient with autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) due to a mutation in the DNA (cytosine-5-)-methyltransferase gene, DNMT1. METHODS: Clinical assessment based on history, neur...
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