Genetic testing in motor neuron disease and frontotemporal dementia: a 5-year multicentre evaluation

Motor neurone disease (MND) is a neurodegenerative disorder that forms a disease spectrum with frontotemporal dementia (FTD). Affected MND/FTD patients and their unaffected relatives are often referred to clinical genetics for genetic testing. Our service evaluation explored genetics testing practices over a five-year period and across ten UK genetics centres. 301 referrals were included, 70 affected patients and 231 unaffected relatives. When comparing our cohort with the UK Genomic Test Directory eligibility criteria, pathogenic C9orf72 expansions would have been missed if the criteria were used alone. We have proposed MND/FTD genetic testing guidelines taking into account appropriate genetic counselling. (By Dr Andrew G. L. Douglas, https://jmg.bmj.com/content/early/2021/05/07/jmedgenet-2021-107776 )

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