| Autor: |
Dratch, Laynie, Kinnamon, Daniel D., Harrington, Elizabeth A., Goldman, Jill, Fong, Jamie C., Jones, Tara, Uhlmann, Wendy R., Roggenbuck, Jennifer |
| Předmět: |
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| Zdroj: |
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration; Nov2024, Vol. 25 Issue 7/8, p797-799, 3p |
| Abstrakt: |
The letter to the editor responds to a study on the risk of developing amyotrophic lateral sclerosis (ALS) in first-degree relatives carrying the C9orf72 hexanucleotide repeat expansion. The study by Van Wijk et al. estimates the ALS risk at 24.1% by age 80, which is lower than previous estimates but aligns with recent epidemiological data. The study highlights the importance of accurate risk communication and genetic counseling, using a kin-cohort design to provide more precise estimates. However, the study has limitations, such as not assessing other clinical presentations of C9orf72 and focusing on ALS risk rather than overall disease development. The findings have implications for families affected by C9orf72 and could impact genetic testing decisions and clinical trial design. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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