PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder
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چکیده
منابع مشابه
PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder
Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer's disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including prominent ataxia, Parkinsonism, spasticity, dystonia, action tremor, myoclonus, bulbar symptoms, sei...
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ژورنال
عنوان ژورنال: Journal of Movement Disorders
سال: 2018
ISSN: 2005-940X,2093-4939
DOI: 10.14802/jmd.17066