Article
New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.
JAMA neurology - 1 Jun 2013
Serrano-Munuera Carmen, Corral-Juan Marc, Stevanin Giovanni, San Nicolás Hector, Roig Carles, Corral Jordi, Campos Berta, de Jorge Laura, Morcillo-Suárez Carlos, Navarro Arcadi, Forlani Sylvie, Durr Alexandra, Kulisevsky Jaime, Brice Alexis, Sánchez Ivelisse, Volpini Victor, Matilla-Dueñas Antoni
Abstract excerpt
IMPORTANCE: To provide clinical and genetic diagnoses for patients' conditions, it is important to identify and characterize the different subtypes of spinocerebellar ataxia (SCA). OBJECTIVE: To clinically and genetically characterize a Spanish kindred with pure SCA presenting with altered vertical eye movements. DESIGN Family study of ambulatory patients. Electro-oculographic and genetics studies were performed...
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