PO-20 | Phenotypic description of a multigenerational family with PRRT2 gene mutation: a case series of six members affected by hemiplegic migraine and paroxysmal events
Abstract
Background: Mutations in the PRRT2 gene have been identified as the cause of a spectrum of disorders, including paroxysmal kinesigenic dyskinesia (PKD) and benign familial infantile epilepsy. Recent evidence suggests its potential role in migraine phenotypes, particularly in cases presenting with complex aura. We present a case series from a single multigenerational family in which six heterozygous carriers of the PRRT2 c.649dup mutation, exhibit migraine and/or paroxysmal neurological events.
Methods: Clinical data were retrospectively collected from six family members through outpatient neurological evaluations, headache diaries, neuroimaging, and genetic testing. The analysis focused on age of migraine onset, aura characteristics, attacks frequency and neurological comorbidities, including movement disorders and early-life paroxysmal events.
Results: All six individuals reported a history of migraine with or without aura. The mean age of onset was 13.5 ± 7.3 years (range 6–28). Four subjects experienced recurrent episodes fulfilling criteria for hemiplegic migraine, one currently reported only a single motor aura episode and one had migraine without aura. Aura episodes included visual, sensory, language, and brainstem symptoms The frequency of migraine attacks ranged from less than 1 to 15 episodes/month, with a mean of 6.2 ± 4.8 monthly migraine days. One subject presented with PKD; two individuals reported childhood paroxysmal events (febrile seizures, absence…
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Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
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