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Article

Personalised penetrance estimation for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia

1 Sept 2024

Abstract excerpt

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 reduces the predictive utility of testing asymptomatic relatives. We have developed a novel model for estimating...

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PMID: 39315390
DOI: 10.1136/bmjno-2024-000792

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