CIDP-like Neuropathy in C9orf72 Mutation: A Case Report

figshare admin karger published a case report PDF in April 2026. The 1.3 MB document details an atypical neuromuscular presentation of a heterozygous C9orf72 repeat expansion in a 68-year-old patient. It describes a sensorimotor polyneuropathy mimicking CIDP, with discussion on expanding the known phenotypic spectrum.

Use Cases

• Reviewing atypical clinical presentations of C9orf72 mutations based on the detailed case description.
• Studying differential diagnosis for chronic inflammatory demyelinating polyneuropathy (CIDP) based on the reported electro-clinical features.
• Analyzing familial patterns in neurodegenerative diseases based on the reported family history of ALS.

Strengths

• Case report includes specific clinical details such as patient age (68), symptom progression over three years, and family history.
• Document is published under a permissive CC-BY-4.0 license, allowing for reuse and sharing.

Limitations

• The dataset is a single case report (PDF), limiting statistical power and generalizability.
• Row count and column-level data are unknown; the resource is a narrative document rather than structured data.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare admin karger

Collection Method

Likely a published or submitted medical case report.

Freshness

Last updated 2026-04-21 09:55:09; freshness should be verified.