C9orf72 Mutation Mimicking Early Onset Alzheimer’s Disease with Prodromal Photosensitive Seizures and Low TDP-43 Pathology: Two Case Reports (P5-13.011)

June 9, 2026Neurology

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Key Points

This report aims to describe the atypical clinical and pathological features associated with C9orf72 mutations in two cases.
Detailed clinical assessments were conducted for two patients with c9orf72-frontotemporal lobar degeneration.
Pathological examinations focused on tdp-43 protein levels and seizure activity monitoring.
Both cases exhibited early onset symptoms resembling Alzheimer's disease.
Prodromal photosensitive seizures were reported in both patients.
Pathological findings showed low levels of tdp-43, differing from typical Alzheimer’s disease profiles.

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Case reports highlight atypical symptoms of C9orf72-related degeneration, suggesting diagnostic challenges.

To report two cases of c9orf72-frontotemporal lobar degeneration (FLTD) with atypical clinicopathologic presentation.

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Carlos et al. (2026) studied this question.

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