Salari Mehri, Hojjatipour Fatemeh, Etemadifar Masoud, Soleimani Sevim
Physical Medicine & Rehabilitation Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Student Research Committee, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran; and.
Neurol Genet. 2025 Feb 28;11(2):e200250. doi: 10.1212/NXG.0000000000200250. eCollection 2025 Apr.
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.
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.
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.
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.
遗传性痉挛性截瘫（HSPs）是遗传性神经退行性疾病，其分类基于遗传方式、等位基因变异和临床表现。尽管全球均有发生，但研究，尤其是中东和北非（MENA）地区的研究仍很匮乏，这凸显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MENA国家HSP的患病率、致病变异和患者特征的数据。
对PubMed、MEDLINE和谷歌学术进行了系统的文献综述。对纳入的研究进行了质量评估。数据提取和分析提供了对该地区HSP现状的见解。
伊朗的HSP患者数量最多，其次是突尼斯。SPG11（19.8%）、FA2H（8.5%）和ZFYVE26（7.7%）是病例中最常发现的基因。胼胝体薄的常染色体隐性HSP在受影响患者中很常见，SPG11被确定为主要病因。
我们的分析突出了遗传多样性和地区患病率差异。尽管MENA国家的研究有限，但我们强调进一步调查的重要性，以填补认识上的空白，改善患者护理和公共卫生举措。
