Q3 Medicine
Advait Gitay, Prashant Dubey, Shalesh Rohatgi, Satish Nirhale, Prajwal Rao, Pravin Naphade
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引用次数: 0

摘要

脊髓小脑共济失调(SCA)-1、2、3、6 和 31 与睡眠行为障碍有关。我们有一名 66 岁的男性患者,他出现了晚发性小脑共济失调。在出现小脑症状的两年前,他曾有过睡眠行为障碍的病史。他的家族史中,他的妹妹也有类似症状。患者的全外显子组测序和他妹妹的桑格测序证实了 SCA-6 的诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Spinocerebellar Ataxia-6 Associated with Sleep Behavior Disorder.

Spinocerebellar ataxia (SCA)-1, 2, 3, 6, and 31 are associated with sleep behavior disorder. We had a 66-year-old male who presented with late-onset cerebellar ataxia. Before 2 years, the onset of cerebellar symptoms, he had a history of sleep behavior disorder. He had a strong family history of similar symptoms in his younger sister. Whole exome sequencing of the patient and Sanger sequencing of his sister confirmed the diagnosis of SCA-6.

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