Hereditary Ataxias: A Genetic Epidemiological Study of a Danish Clinical Cohort

IF 2.9 3区医学 Q2 CLINICAL NEUROLOGY

Acta Neurologica Scandinavica Pub Date : 2025-07-10 DOI:10.1155/ane/1614771

Jesper Dybdal Kayser, Rosa Dam Waerling, Suzanne Granhøj Lindquist, Morten Duno, Jørgen Erik Nielsen, Tua Vinther-Jensen

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Abstract

Background: Ataxia, characterized by incoordination of movement, presents a diverse etiological spectrum, including genetic forms such as spinocerebellar ataxias (SCAs), Friedreich’s ataxia (FRDA), and other hereditary ataxias. Identifying and understanding the distribution of the genetic subtypes in specific populations are crucial for clinical management, genetic counseling, and prognostication.

Objective: This study is aimed at investigating the genetic epidemiology of hereditary ataxias in a clinical cohort from Eastern Denmark, focusing on the prevalence and distribution of the genetic ataxias.

Methods: We conducted a chart review of 297 patients diagnosed with ataxia from the two major referral centers in Eastern Denmark between 2018 and 2023. Diagnoses were divided into groups: confirmed genetic ataxia, presumed genetic ataxia (no genetic variant identified, positive family history) and possible genetic ataxia (debut before the age of 40, no family history), sporadic adult-onset ataxia (SAOA) (debut after the age of 40, no family history), and multiple system atrophy–cerebellar type (MSA-C)). Data collected included demographics, clinical features, age of onset, and results of genetic testing.

Results: Of the 297 patients, 144 (48.5%) had a confirmed genetic ataxia, 26 (8.8%) were classified as presumed genetic ataxia, and 19 (6.4%) were categorized as possible genetic ataxia. The most common subtypes were SCA6, SCA2, and SCA3. The study revealed notable differences in the prevalence of specific ataxia subtypes compared to global patterns.

Conclusion: This study provides an overview of the epidemiology and genetic landscape of hereditary ataxias in Denmark. The high prevalence of SCA6 and unique distribution patterns emphasizes the need for population-specific data to guide clinical practice. Ongoing trials for SCA1 and SCA3 highlight the importance of understanding the epidemiology of ataxias across different countries to establish trial-ready cohorts and address future treatment needs.

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遗传性共济失调：丹麦临床队列的遗传流行病学研究

背景：以运动不协调为特征的共济失调有多种病因，包括脊髓小脑性共济失调（SCAs）、弗里德赖希共济失调（FRDA）和其他遗传性共济失调。识别和了解遗传亚型在特定人群中的分布对临床管理、遗传咨询和预后至关重要。目的：本研究旨在调查丹麦东部临床队列中遗传性共济失调的遗传流行病学，重点研究遗传性共济失调的患病率和分布。方法：我们对2018年至2023年丹麦东部两个主要转诊中心诊断为共济失调的297例患者进行了图表回顾。诊断分为：确诊遗传性共济失调、推定遗传性共济失调（未发现遗传变异，阳性家族史）、可能遗传性共济失调（40岁前发病，无家族史）、散发性成人发病共济失调（SAOA）（40岁后发病，无家族史）、多系统萎缩-小脑型（MSA-C）。收集的数据包括人口统计学、临床特征、发病年龄和基因检测结果。结果：297例患者中，确诊遗传性共济失调144例（48.5%），推定遗传性共济失调26例（8.8%），可能遗传性共济失调19例（6.4%）。最常见的亚型是sc6、SCA2和SCA3。该研究显示，与全球模式相比，特定共济失调亚型的患病率存在显著差异。结论：本研究概述了丹麦遗传性共济失调的流行病学和遗传景观。SCA6的高流行率和独特的分布模式强调需要针对特定人群的数据来指导临床实践。正在进行的SCA1和SCA3的试验强调了了解不同国家共济失调流行病学的重要性，以建立试验准备队列并解决未来的治疗需求。

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来源期刊

Acta Neurologica Scandinavica 医学-临床神经学

CiteScore

6.70

自引率

2.90%

发文量

161

审稿时长

4-8 weeks

期刊介绍： Acta Neurologica Scandinavica aims to publish manuscripts of a high scientific quality representing original clinical, diagnostic or experimental work in neuroscience. The journal''s scope is to act as an international forum for the dissemination of information advancing the science or practice of this subject area. Papers in English will be welcomed, especially those which bring new knowledge and observations from the application of therapies or techniques in the combating of a broad spectrum of neurological disease and neurodegenerative disorders. Relevant articles on the basic neurosciences will be published where they extend present understanding of such disorders. Priority will be given to review of topical subjects. Papers requiring rapid publication because of their significance and timeliness will be included as ''Clinical commentaries'' not exceeding two printed pages, as will ''Clinical commentaries'' of sufficient general interest. Debate within the speciality is encouraged in the form of ''Letters to the editor''. All submitted manuscripts falling within the overall scope of the journal will be assessed by suitably qualified referees.