Article
SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families.
Neuro-degenerative diseases - 1 Jan 2017
Hammer Monia B, Ding Jinhui, Mochel Fanny, Eleuch-Fayache Ghada, Charles Perrine, Coutelier Marie, Gibbs J Raphael, Arepalli Sampath K, Chong Sean B, Hernandez Dena G, Majounie Elisa, Clipman Steven, Bouhlal Yosr, Nehdi Houda, Brice Alexis, Hentati Faycal, Stevanin Giovanni, Amouri Rim, Durr Alexandra, Singleton Andrew B
Abstract excerpt
BACKGROUND: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure, and complicating clinical features such as pyramidal signs or extraneurological features are found. OBJECTIVE: To identify the genetic origin of the cerebellar ataxia for 3 consanguineous North African families...
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