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在波兰,第一个患有7型脊髓小脑动症的家庭是第一个

Jarosław Dulski^1,2,3, Rana Hanna Al-Shaikh^1,4, Mercedes Prudencio^4,5

¹Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.

Neurologia i neurochirurgia polska

|June 7, 2023

概括

我们报告了第一个波兰家庭患有第7型脊髓小脑动症 (SCA7),并指出了潜在的心脏问题. 这扩大了对SCA7表现的理解,超出了视力丧失和视力衰竭.

科学领域:

遗传学遗传学是一个
神经学神经学
心脏病学心脏病学

背景情况:

脊髓小脑动症7型 (SCA7) 是一种神经退行性疾病.
视网膜退化和动力衰竭是SCA7的标志性症状.
波兰以前没有报告SCA7的情况.

研究的目的:

报告波兰家庭中首次确诊的SCA7病例.
为了调查SCA7患者的潜在心脏参与.
突出SCA7.7的新型临床表现.

主要方法:

两个波兰家庭SCA7.7的案例研究.
临床评估包括神经学检查和脑MRI.
在ATXN7基因中对CAG重复扩张的遗传分析.
对心力衰竭和心肌病的心脏学评估.

主要成果:

通过基因检测 (ATXN7 CAG扩展) 在两个家族中确认了SCA7诊断.
患者呈现出渐进的视力丧失和小脑动力衰竭.
一名患者表现出慢性充血性心力衰竭和心肌病变,这是一个以前未报告的发现,在成人发病的SCA7.

结论:

现在在波兰发现了SCA7,扩大了其已知的地理分布.
心脏异常可能代表SCA7的新潜在表现,特别是在成人发病的情况下.
需要进一步的研究来证实SCA7与心脏参与之间的联系.

关键词:

在SCA7中,SCA7是SCA7.这是一种遗传性遗传.这是一种神经退行性疾病.视网膜退化视网膜退化

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