Hereditary Ataxias in Argentina.

IF 2.7 3区医学 Q3 NEUROSCIENCES

Cerebellum Pub Date : 2025-04-08 DOI:10.1007/s12311-025-01834-x

Malco Rossi, Marcelo Merello

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引用次数: 0

Abstract

Hereditary or genetic ataxias are hundreds of disorders characterized by large phenotypic, genetic, and epidemiological heterogeneity. In Argentina, 35 genetic ataxias have been identified, with SCA1 (ATX-ATXN1), SCA2 (ATX-ATXN2), SCA3 (ATX-ATXN3), and Friedreich ataxia (ATX-FXN) as the most prevalent causes, reflecting the epidemiology of most Western European countries, the main origin of immigration to the country. Genetic diagnostic studies of ataxia cohorts in Argentina have found high rates of undiagnosed patients, ranging from 65 to 82%. Deep phenotyping, comprehensive genetic testing, and knowledge of the prevalence of different genetic ataxias are essential for an accurate diagnostic and treatment approach in clinical practice. This narrative review proposes a targeted, tiered genetic diagnostic approach for undiagnosed patients based on the Argentinian epidemiological and healthcare system data. Future national efforts should support comprehensive screening studies on ataxia cohorts, including testing for repeat expansions in RFC1 and FGF14 genes. In addition, establishing a trial-ready patient registry for genetic ataxias, enhancing networking with international clinical and research initiatives, and developing specialized centers for interdisciplinary care of genetic ataxia patients are recommended.

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阿根廷的遗传性共济失调。

遗传性或遗传性共济失调是数以百计的疾病，其特点是表型、遗传和流行病学异质性很大。阿根廷已发现 35 种遗传性共济失调症，其中 SCA1 (ATX-ATXN1)、SCA2 (ATX-ATXN2)、SCA3 (ATX-ATXN3) 和弗里德雷共济失调 (ATX-FXN) 是最常见的病因，反映了阿根廷主要移民来源国--大多数西欧国家的流行病学。对阿根廷共济失调队列进行的基因诊断研究发现，未确诊患者的比例很高，从65%到82%不等。深入的表型分析、全面的基因检测以及对不同遗传性共济失调患病率的了解，对于在临床实践中采用准确的诊断和治疗方法至关重要。本综述以阿根廷流行病学和医疗系统数据为基础，针对未确诊患者提出了一种有针对性的分层基因诊断方法。未来的国家工作应支持共济失调队列的全面筛查研究，包括检测 RFC1 和 FGF14 基因的重复扩增。此外，还建议为遗传性共济失调建立一个可用于试验的患者登记册，加强与国际临床和研究计划的联系，并建立专门的中心为遗传性共济失调患者提供跨学科治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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.