Progressive Ataxia and Palatal Tremor: Think about POLG Mutations
نویسندگان
چکیده
BACKGROUND Progressive ataxia and palatal tremor (PAPT) can be observed in both acquired brainstem or cerebellar lesions and genetic disorders. PHENOMENOLOGY SHOWN PAPT due to mutation in POLG, the gene encoding the mitochondrial DNA polymerase. EDUCATIONAL VALUE POLG mutation should be considered in patients with PAPT, particularly when additional clues such as a sensory neuronopathy or an ophthalmoplegia are present.
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عنوان ژورنال:
دوره 6 شماره
صفحات -
تاریخ انتشار 2016