دورية أكاديمية
Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review
| العنوان: | Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review |
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| المؤلفون: | Neha P. Godbole, Elizabeth Haxton, Olivia E. Rowe, Joseph J. Locascio, Jeremy D. Schmahmann, Florian S. Eichler, Eva‐Maria Ratai, Christopher D. Stephen |
| المصدر: | Annals of Clinical and Translational Neurology, Vol 11, Iss 1, Pp 207-224 (2024) |
| بيانات النشر: | Wiley, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Neurosciences. Biological psychiatry. Neuropsychiatry LCC:Neurology. Diseases of the nervous system |
| مصطلحات موضوعية: | Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429 |
| الوصف: | Abstract Objective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies considered LOTS and LOSD clinically indistinguishable; recent studies have challenged this. We performed a scoping review to ascertain whether imaging and clinical features may differentiate these diseases. Methods We examined MEDLINE/non‐MEDLINE databases up to May 2022. Articles reporting brain imaging findings in genetically/enzymatically confirmed LOGG, symptom onset at age ≥ 10 years (or evaluated at least once ≥18 years) were included, yielding 170 LOGG patients (LOTS = 127, LOSD = 43) across 68 papers. We compared LOTS versus LOSD and performed regression analyses. Results were corrected for multiple comparisons. Results Age of onset was lower in LOTS versus LOSD (17.9 ± 8.2 vs. 23.9 ± 14.4 years, p = 0.017), although disease duration was similar (p = 0.34). LOTS more commonly had psychosis/bipolar symptoms (35.0% vs. 9.30%, p = 0.011) but less frequent swallowing problems (4.10% vs. 18.60%, p = 0.041). Cerebellar atrophy was more common in LOTS (89.0%) versus LOSD (60.5%), p |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2328-9503 |
| Relation: | https://doaj.org/toc/2328-9503 |
| DOI: | 10.1002/acn3.51947 |
| URL الوصول: | https://doaj.org/article/f9c564ae46ce402cb82ebfacbdeb3e85 |
| رقم الأكسشن: | edsdoj.f9c564ae46ce402cb82ebfacbdeb3e85 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 23289503 |
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| DOI: | 10.1002/acn3.51947 |