脊髓小脑共济失调-6与睡眠行为障碍相关。

Q3 Medicine The Journal of the Association of Physicians of India Pub Date : 2024-12-01 DOI:10.59556/japi.72.0631

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。

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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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