A novel heterozygous GRN deletion (c.302_315del) associated with behavioral variant fronto

A single clinical case report details a 64-year-old woman with progressive behavioral and cognitive decline. The report includes her Mini-Mental State Examination score of 14, Montreal Cognitive Assessment score of 11, and brain MRI findings of asymmetric atrophy. Author Li Liu published this case on figshare in 2026 to expand the known mutational spectrum of the GRN gene.

Use Cases

• Study genotype-phenotype correlations in frontotemporal dementia based on the described clinical presentation and genetic finding.
• Benchmark neuropsychological assessment scores (MMSE, MoCA) against imaging findings based on the reported case details.
• Analyze the spectrum of pathogenic GRN mutations based on the novel heterozygous deletion (c.302_315del) identified.

Strengths

• Includes specific neuropsychological scores (MMSE=14, MoCA=11) and detailed clinical presentation.
• Identifies a specific pathogenic genetic variant (GRN c.302_315del) via whole-exome sequencing.
• Published under an open CC-BY-4.0 license, permitting reuse.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

Li Liu via figshare.

Collection Method

Clinical case report based on patient evaluation, neuropsychological assessment, brain MRI, and whole-exome sequencing.

Freshness

Last updated 2026-05-23 14:58:26; freshness should be verified.