家族性肌萎缩性侧索硬化症和脊髓小脑共济失调 2 型伴 ATXN2 基因完全 CAG 重复扩展。
Amyotrophic lateral sclerosis and spinocerebellar ataxia type 2 in a family with full CAG repeat expansions of ATXN2.
出版信息
JAMA Neurol. 2013 Oct;70(10):1302-4. doi: 10.1001/jamaneurol.2013.443.
Abstract
IMPORTANCE
A family with coexistence of spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis (ALS) is described.
OBSERVATIONS
Intermediate or full CAG repeat expansions of ATXN2 are associated with ALS. However, no coexistence of spinocerebellar ataxia type 2 and ALS in a family has been reported in the literature.We describe a 47-year-old woman with an 11-year history of ataxia and her paternal uncle with ALS who were evaluated at Columbia University Medical Center since July 2006. Both our patient with ataxia and her uncle with ALS have full pathological CAG repeat expansions of ATXN2.
CONCLUSIONS AND RELEVANCE
The diverse clinical phenotypes of ATXN2 CAG expansions and their coexistence in a single family are highlighted. A clinician should consider the diagnosis of spinocerebellar ataxia type 2 when encountering a patient with ataxia and a family history of ALS.
摘要
重要性
描述了一个同时患有脊髓小脑共济失调 2 型和肌萎缩侧索硬化症（ALS）的家族。
观察结果
ATXN2 的中间或完全 CAG 重复扩展与 ALS 相关。然而，文献中尚无脊髓小脑共济失调 2 型和 ALS 在一个家族中共存的报道。我们描述了一名 47 岁女性，她有 11 年的共济失调病史，她的叔父爱荷华大学医学中心评估自 2006 年 7 月以来。我们的共济失调患者和患有 ALS 的叔叔都有 ATXN2 的完整病理性 CAG 重复扩展。
结论和相关性
突出了 ATXN2 CAG 扩展的不同临床表现型及其在单个家族中的共存。当遇到有共济失调和 ALS 家族史的患者时，临床医生应考虑脊髓小脑共济失调 2 型的诊断。
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