{"title":"The involvement of central nervous system across the phenotypic spectrum of Pompe disease: a systematic review","authors":"Francesca Torri , Bianca Buchignani , Zeynep Unluturk , Gabriele Vadi , Sara Loprieno , Roberta Battini , Michelangelo Mancuso , Gabriele Siciliano","doi":"10.1016/j.nmd.2025.105362","DOIUrl":null,"url":null,"abstract":"<div><div>Pompe disease is an inherited lysosomal disorder which results in glycogen buildup in various organs and tissues. The phenotypic spectrum of this disorder encompasses infantile and late-onset forms, with variable multisystem involvement. Affection of the central nervous system is known to variably present in infantile forms, while the incidence of disease-related alterations in older patients is more debated. PubMed, Web of Science and Scopus databases were searched for papers regarding brain and spinal cord abnormalities at imaging and pathology, neuropsychological assessment and clinical reports in Pompe disease, without chronological restrictions. The database search identified 609 records, then 282 full-text articles were retrieved for detailed examination. Of these records, 81 were selected, which presented heterogeneity in methodology and overall analyzed small cohorts. Our search highlights the current fragmented evidence presented in the field. It would be advisable to perform a routine CNS assessment at least by imaging and neuropsychological evaluation at the time of diagnosis and as part of a regular follow-up, for IOPD but also for LOPD patients, to better characterize the prevalence and clinical significance of CNS abnormalities and provide a tailored follow-up.</div></div>","PeriodicalId":19135,"journal":{"name":"Neuromuscular Disorders","volume":"51 ","pages":"Article 105362"},"PeriodicalIF":2.7000,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuromuscular Disorders","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0960896625000896","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Pompe disease is an inherited lysosomal disorder which results in glycogen buildup in various organs and tissues. The phenotypic spectrum of this disorder encompasses infantile and late-onset forms, with variable multisystem involvement. Affection of the central nervous system is known to variably present in infantile forms, while the incidence of disease-related alterations in older patients is more debated. PubMed, Web of Science and Scopus databases were searched for papers regarding brain and spinal cord abnormalities at imaging and pathology, neuropsychological assessment and clinical reports in Pompe disease, without chronological restrictions. The database search identified 609 records, then 282 full-text articles were retrieved for detailed examination. Of these records, 81 were selected, which presented heterogeneity in methodology and overall analyzed small cohorts. Our search highlights the current fragmented evidence presented in the field. It would be advisable to perform a routine CNS assessment at least by imaging and neuropsychological evaluation at the time of diagnosis and as part of a regular follow-up, for IOPD but also for LOPD patients, to better characterize the prevalence and clinical significance of CNS abnormalities and provide a tailored follow-up.
庞贝病是一种遗传性溶酶体疾病,导致糖原积聚在各种器官和组织中。这种疾病的表型谱包括婴儿期和迟发性形式,具有可变的多系统累及。已知中枢神经系统的影响在婴儿形式中存在变化,而老年患者中疾病相关改变的发生率则存在更多争议。在PubMed、Web of Science和Scopus数据库中检索了有关庞贝病的脑和脊髓影像学和病理学异常、神经心理学评估和临床报告的论文,没有时间限制。数据库检索到609条记录,检索到282篇全文文章进行详细检查。在这些记录中,选择了81份,这些记录在方法上存在异质性,并且总体上分析了小队列。我们的搜索突出了目前在该领域提出的支离破碎的证据。对于IOPD和LOPD患者,建议在诊断时至少通过影像学和神经心理学评估进行常规CNS评估,并作为常规随访的一部分,以更好地表征CNS异常的患病率和临床意义,并提供量身定制的随访。
期刊介绍:
This international, multidisciplinary journal covers all aspects of neuromuscular disorders in childhood and adult life (including the muscular dystrophies, spinal muscular atrophies, hereditary neuropathies, congenital myopathies, myasthenias, myotonic syndromes, metabolic myopathies and inflammatory myopathies).
The Editors welcome original articles from all areas of the field:
• Clinical aspects, such as new clinical entities, case studies of interest, treatment, management and rehabilitation (including biomechanics, orthotic design and surgery).
• Basic scientific studies of relevance to the clinical syndromes, including advances in the fields of molecular biology and genetics.
• Studies of animal models relevant to the human diseases.
The journal is aimed at a wide range of clinicians, pathologists, associated paramedical professionals and clinical and basic scientists with an interest in the study of neuromuscular disorders.