巴西脊髓小脑性共济失调10型(SCA 10)。

IF 2.7 3区 医学 Q3 NEUROSCIENCES
Hélio A Ghizoni Teive, Léo Coutinho, Carlos Henrique F Camargo
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引用次数: 0

摘要

脊髓小脑性共济失调10型(SCA10)是一种常染色体显性遗传性共济失调,由ATXN10基因9内含子中ATTCT五核苷酸重复扩增引起。这种罕见的SCA主要见于美洲原住民和东亚后裔。值得注意的是,在墨西哥和巴西南部的帕拉纳州和圣卡塔琳娜州,SCA10被确定为脊髓小脑性共济失调的第二常见类型。最初,在墨西哥描述的表型特征是小脑共济失调和癫痫的结合-在其他拉丁美洲和亚洲国家以及巴西的一些州也观察到这种表现。然而,在帕拉纳岛和圣卡塔琳娜岛,SCA10的主要表现是纯粹的小脑性共济失调,这与其他地区的表现不同。
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 Type 10 (SCA 10) in Brazil.

Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant inherited ataxia caused by the expansion of ATTCT pentanucleotide repeats in intron 9 of the ATXN10 gene. This rare form of SCA has predominantly been observed in individuals of Indigenous American and East Asian descent. Notably, in Mexico and the southern Brazilian states of Paraná and Santa Catarina, SCA10 is identified as the second most prevalent type of spinocerebellar ataxia. Initially, the phenotype described in Mexico featured a combination of cerebellar ataxia and epilepsy-a presentation also observed in other Latin American and Asian countries, as well as some Brazilian states. However, in Paraná and Santa Catarina, the predominant manifestation of SCA10 is pure cerebellar ataxia, which is distinguished from the presentations seen in other regions.

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来源期刊
Cerebellum
Cerebellum 医学-神经科学
CiteScore
6.40
自引率
14.30%
发文量
150
审稿时长
4-8 weeks
期刊介绍: Official publication of the Society for Research on the Cerebellum devoted to genetics of cerebellar ataxias, role of cerebellum in motor control and cognitive function, and amid an ageing population, diseases associated with cerebellar dysfunction. The Cerebellum is a central source for the latest developments in fundamental neurosciences including molecular and cellular biology; behavioural neurosciences and neurochemistry; genetics; fundamental and clinical neurophysiology; neurology and neuropathology; cognition and neuroimaging. The Cerebellum benefits neuroscientists in molecular and cellular biology; neurophysiologists; researchers in neurotransmission; neurologists; radiologists; paediatricians; neuropsychologists; students of neurology and psychiatry and others.
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