A novel heterozygous GRN deletion (c.302_315del) associated with behavioral variant frontotemporal dementia.
Li Liu, Yan Gao, Zichang Wang et al.
✦ AI-curated · Sources linked
Case in brief
A 64-year-old woman presented with progressive behavioral and cognitive decline, including personality change, apathy, disinhibition, irritability, executive dysfunction, and memory impairment. Cognitive testing showed MMSE 14 and MoCA 11. MRI demonstrated asymmetric fronto-temporo-parietal atrophy, more pronounced on the right. Whole-exome sequencing identified a heterozygous pathogenic GRN c.302_315del mutation, which was also identified in one of her sons. The findings supported behavioral variant frontotemporal dementia associated with a GRN mutation.
What made this case unusual
The report describes a GRN c.302_315del deletion associated with bvFTD and identified in the patient’s son; the authors state that it expands the known GRN mutational spectrum.
Diagnostic / clinical pearl
In a patient with progressive behavioral and cognitive decline and frontotemporal-predominant atrophy, genetic testing can identify a pathogenic GRN variant relevant to the bvFTD diagnosis.