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Case report: TMEM106B haplotype alters penetrance of GRN mutation in frontotemporal dementia family

3 Apr 2023

Abstract excerpt

Frontotemporal dementia (FTD) is the second-most common young-onset dementia. Variants in the TMEM106B gene have been proposed as modifiers of FTD disease risk, especially in progranulin ( GRN ) mutation carriers. A patient in their 50s presented to our clinic with behavioral variant FTD (bvFTD). Genetic testing revealed the disease-causing variant c.349 + 1G > C in GRN . Family testing revealed that the mutation...

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PMID: 37077569
DOI: 10.3389/fneur.2023.1160248

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