Supplementary Material for ABCA7 Mutation in Frontotemporal Dementia Case Report

A 1.8 MB PDF document provides supplementary material for a published case report on a rare genetic variant in frontotemporal dementia. The material, authored by figshare admin karger and last updated in May 2026, describes a heterozygous nonsense variant (c.5260C>T) in the ABCA7 gene identified in a 42-year-old female patient with behavioral variant frontotemporal dementia (bvFTD). It supports the hypothesis of ABCA7 loss-of-function in early-onset bvFTD and argues for broad genetic testing.

Use Cases

• Reviewing genetic evidence for ABCA7 mutations in non-Alzheimer's dementias based on the case description
• Supporting meta-analyses on rare genetic variants in frontotemporal lobar degeneration based on the reported variant
• Informing clinical guidelines for genetic testing in early-onset behavioral dementia based on the case findings
• Studying genotype-phenotype correlations in neurodegenerative disorders based on the specific ABCA7 variant and patient presentation

Strengths

• The dataset is a 1.8 MB PDF file, indicating a small, easily downloadable document.
• The material is published under a CC-BY-4.0 license, allowing for broad reuse and sharing.
• It reports a specific, previously unreported genetic variant (c.5260C>T, p.Arg1754*) with clinical context.

Limitations

• The dataset is a single case report, limiting statistical power and generalizability.
• Row count and column-level documentation are absent; data structure must be inferred from the PDF.
• The description metadata is limited; actual data quality and completeness require manual inspection after download.

Provenance

Source

figshare admin karger

Collection Method

Likely contains clinical case data and genetic sequencing results from a family trio whole exome sequencing.

Freshness

Last updated 2026-05-13 07:55:13; freshness should be verified.