دورية أكاديمية
Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations
العنوان: | Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations |
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المؤلفون: | Julian Theuriet, Antoine Pegat, Pascal Leblanc, Sandra Vukusic, Cécile Cazeneuve, Stéphanie Millecamps, Guillaume Banneau, Marine Guillaud-Bataille, Emilien Bernard |
المصدر: | Genes, Vol 12, Iss 12, p 1876 (2021) |
بيانات النشر: | MDPI AG, 2021. |
سنة النشر: | 2021 |
المجموعة: | LCC:Genetics |
مصطلحات موضوعية: | hereditary spastic paraplegia, amyotrophic lateral sclerosis, SPG5, frontotemporal dementia, ALS/FTD, CYP7B1, Genetics, QH426-470 |
الوصف: | Biallelic mutations in the CYP7B1 gene lead to spastic paraplegia-5 (SPG5). We report herein the case of a patient whose clinical symptoms began with progressive lower limb spasticity during childhood, and who secondly developed amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) at the age of 67 years. Hereditary spastic paraplegia (HSP) gene analysis identified the compound heterozygous mutations c.825T>A (pTyr275*) and c.1193C>T (pPro398Leu) in CYP7B1 gene. No other pathogenic variant in frequent ALS/FTD causative genes was found. The CYP7B1 gene seems, therefore, to be the third gene associated with the phenoconversion from HSP to ALS, after the recently described UBQLN2 and ERLIN2 genes. We therefore expand the phenotype associated with CYP7B1 biallelic mutations and make an assumption about a link between cholesterol dyshomeostasis and ALS/FTD. |
نوع الوثيقة: | article |
وصف الملف: | electronic resource |
اللغة: | English |
تدمد: | 2073-4425 |
العلاقة: | https://www.mdpi.com/2073-4425/12/12/1876Test; https://doaj.org/toc/2073-4425Test |
DOI: | 10.3390/genes12121876 |
الوصول الحر: | https://doaj.org/article/28db1369476748e281c246ae2fe0b477Test |
رقم الانضمام: | edsdoj.28db1369476748e281c246ae2fe0b477 |
قاعدة البيانات: | Directory of Open Access Journals |
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