Personalised penetrance estimation for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia
Background C9orf72 hexanucleotide repeat expansions are the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) in European populations. Variable disease penetrance between families presents a challenge for genetic counselling of at-risk relatives and r...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMJ Publishing Group
2024-09-01
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| Series: | BMJ Neurology Open |
| Online Access: | https://neurologyopen.bmj.com/content/6/2/e000792.full |