Article
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2.
BMC medical genetics - 19 Mar 2015
Mancini Cecilia, Orsi Laura, Guo Yiran, Li Jiankang, Chen Yulan, Wang Fengxiang, Tian Lifeng, Liu Xuanzhu, Zhang Jianguo, Jiang Hui, Nmezi Bruce Shike, Tatsuta Takashi, Giorgio Elisa, Di Gregorio Eleonora, Cavalieri Simona, Pozzi Elisa, Mortara Paolo, Caglio Maria Marcella, Balducci Alessandro, Pinessi Lorenzo, Langer Thomas, Padiath Quasar S, Hakonarson Hakon, Zhang Xiuqing, Brusco Alfredo
Abstract excerpt
BACKGROUND: Hereditary ataxias are a heterogeneous group of neurodegenerative disorders, where exome sequencing may become an important diagnostic tool to solve clinically or genetically complex cases. METHODS: We describe an Italian family in which three sisters were affected by ataxia with postural/intentional myoclonus and involuntary movements at onset, which persisted during the disease. Oculomotor apraxia...
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