{"title":"Review of the Genetic Spectrum of Hereditary Spastic Paraplegias in the Middle East and North Africa Regions.","authors":"Mehri Salari, Fatemeh Hojjatipour, Masoud Etemadifar, Sevim Soleimani","doi":"10.1212/NXG.0000000000200250","DOIUrl":null,"url":null,"abstract":"<p><strong>Background and objectives: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Discussion: </strong>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.</p>","PeriodicalId":48613,"journal":{"name":"Neurology-Genetics","volume":"11 2","pages":"e200250"},"PeriodicalIF":3.7000,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11876988/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurology-Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1212/NXG.0000000000200250","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/4/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
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.
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.