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Chronic Inflammatory Demyelinating Polyradiculoneuropathy-Like Neuropathy in Heterozygous C9orf72 Mutation: A Case
Valentin Loser1, Vadim Afanasiev2, Alex Vicino1
1Nerve Muscle Unit, Neurology Service, Department of Clinical Neurosciences, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Case Reports in Neurology
|June 29, 2026
Summary
C9orf72 repeat expansion typically causes ALS/FTD. This case reveals an atypical presentation of sensorimotor polyneuropathy mimicking CIDP, expanding the known C9orf72 gene disorder spectrum.
Area of Science:
- Neurology
- Genetics
- Neuroimmunology
Background:
- The C9orf72 repeat expansion is a common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
- Neuromuscular presentations of C9orf72 repeat expansion are less common, and atypical phenotypes can delay diagnosis.
