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



M Salari MEHRI ; F Hojjatipour FATEMEH ; M Etemadifar MASOUD ; S Soleimani SEVIM
Source: Neurology: Genetics Published:2025

Abstract

Background and ObjectivesHereditary 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. © 2025 Elsevier B.V., All rights reserved.