دورية أكاديمية
Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations
| العنوان: | Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations |
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| المؤلفون: | Zsófia Flóra Nagy, Margit Pál, József I. Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Széll |
| المصدر: | BMC Medical Genomics, Vol 17, Iss 1, Pp 1-8 (2024) |
| بيانات النشر: | BMC, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Internal medicine LCC:Genetics |
| مصطلحات موضوعية: | Amyotrophic lateral sclerosis, ALS, ALS genetics, Intermediate length repeat expansion, Copy number variation, ATXN1, Internal medicine, RC31-1245, Genetics, QH426-470 |
| الوصف: | Abstract Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder which is characterized by the loss of both upper and lower motor neurons in the central nervous system. In a significant fraction of ALS cases - irrespective of family history- a genetic background may be identified. The genetic background of ALS shows a high variability from one ethnicity to another. The most frequent genetic cause of ALS is the repeat expansion of the C9orf72 gene. With the emergence of next-generation sequencing techniques and copy number alteration calling tools the focus in ALS genetics has shifted from disease causing genes and mutations towards genetic susceptibility and risk factors. In this review we aimed to summarize the most widely recognized and studied ALS linked repeat expansions and copy number variations other than the hexanucleotide repeat expansion in the C9orf72 gene. We compare and contrast their involvement and phenotype modifying roles in ALS among different populations. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1755-8794 |
| Relation: | https://doaj.org/toc/1755-8794 |
| DOI: | 10.1186/s12920-024-01807-9 |
| URL الوصول: | https://doaj.org/article/06677fb6d06d4615ae2f997f20e37747 |
| رقم الأكسشن: | edsdoj.06677fb6d06d4615ae2f997f20e37747 |
| قاعدة البيانات: | Directory of Open Access Journals |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 17558794 |
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| DOI: | 10.1186/s12920-024-01807-9 |