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AD – Donepezil Trial Withdrawal — SCE Neurology MCQ

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HardNeurodegenerative DiseaseAD – Donepezil Trial WithdrawalSCE Neurology

A 64-year-old develops a complex sleep disorder with vocalisation, dream enactment and stridor, followed by dysphagia, gait instability and autonomic dysfunction. Polysomnography shows undifferentiated non-REM and REM sleep with abnormal motor activity. Which antibody test is most diagnostically targeted?

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Correct answer: A — Serum and CSF anti-IgLON5 antibodies

The combination of a distinctive parasomnia or sleep-disordered breathing phenotype with bulbar dysfunction, gait disorder and dysautonomia is characteristic of anti-IgLON5 disease. Anti-DPPX more often causes encephalopathy with diarrhoea and hyperekplexia; CASPR2 is associated with limbic encephalitis, neuromyotonia and Morvan syndrome; glycine-receptor antibodies cause stiff-person-spectrum or hyperekplexia phenotypes; anti-Hu suggests a paraneoplastic encephalomyelitis or sensory-neuronopathy syndrome.

Reference: New knowledge on anti-IgLON5 disease (Published May 2024): https://pmc.ncbi.nlm.nih.gov/articles/PMC11064895/