Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.

IF 3.7 3区 医学 Q2 CLINICAL NEUROLOGY Neurology-Genetics Pub Date : 2025-02-28 eCollection Date: 2025-04-01 DOI:10.1212/NXG.0000000000200250
Mehri Salari, Fatemeh Hojjatipour, Masoud Etemadifar, Sevim Soleimani
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Abstract

Background and objectives: Hereditary spastic paraplegias (HSPs) are inherited neurodegenerative disorders, and their classification is based on inheritance mode, allelic variants, and clinical presentation. Despite global occurrence, research, especially in the Middle East and North Africa (MENA) regions, is lacking, underscoring the need for further investigation. The objective of this study was to improve the regions' clinical practice and public health, and this study aims to gather data on HSP prevalence, pathogenic variants, and patient characteristics in MENA countries.

Methods: A systematic literature review encompassing PubMed, MEDLINE, and Google Scholar was conducted. Quality assessment was performed on the included studies. Data extraction and analysis provided insights into HSP's current status in the region.

Results: Iran had the highest number of patients with HSP, followed by Tunisia. SPG11 (19.8%), FA2H (8.5%), and ZFYVE26 (7.7%) were the most frequently found genes in the cases. Autosomal recessive HSP with thin corpus callosum was common among the affected patients, with SPG11 identified as the primary cause.

Discussion: Our analysis highlights genetic diversity and regional prevalence variations. Despite limited research in MENA countries, we stress the importance of further investigation to address gaps in understanding and improve patient care and public health initiatives.

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中东和北非地区遗传性痉挛性截瘫的遗传谱综述。
背景和目的:遗传性痉挛性截瘫(HSPs)是一种遗传性神经退行性疾病,其分类基于遗传模式、等位基因变异和临床表现。尽管在全球范围内发生,但缺乏研究,特别是在中东和北非(MENA)地区,这强调了进一步调查的必要性。本研究的目的是改善该地区的临床实践和公共卫生,本研究旨在收集中东和北非国家HSP患病率、致病变异和患者特征的数据。方法:系统回顾PubMed、MEDLINE和谷歌Scholar的文献。对纳入的研究进行质量评价。数据提取和分析为HSP在该地区的现状提供了深入的见解。结果:伊朗HSP患者最多,突尼斯次之。SPG11(19.8%)、FA2H(8.5%)和ZFYVE26(7.7%)是病例中最常见的基因。常染色体隐性HSP伴胼胝体薄在患者中较为常见,SPG11为主要病因。讨论:我们的分析强调了遗传多样性和区域流行差异。尽管在中东和北非国家的研究有限,但我们强调进一步调查的重要性,以解决在理解和改善病人护理和公共卫生倡议方面的差距。
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来源期刊
Neurology-Genetics
Neurology-Genetics Medicine-Neurology (clinical)
CiteScore
6.30
自引率
3.20%
发文量
107
审稿时长
15 weeks
期刊介绍: Neurology: Genetics is an online open access journal publishing peer-reviewed reports in the field of neurogenetics. Original articles in all areas of neurogenetics will be published including rare and common genetic variation, genotype-phenotype correlations, outlier phenotypes as a result of mutations in known disease-genes, and genetic variations with a putative link to diseases. This will include studies reporting on genetic disease risk and pharmacogenomics. In addition, Neurology: Genetics will publish results of gene-based clinical trials (viral, ASO, etc.). Genetically engineered model systems are not a primary focus of Neurology: Genetics, but studies using model systems for treatment trials are welcome, including well-powered studies reporting negative results.
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