We report a young patient harboring a RHOBTB2 likely pathogenic variant with recurrent episodes of headache, dysautonomia and hemiplegia consistent with hemiplegic migraine. Such episodes were responsive to flunarizine prophylaxis. Ictal MRI showed contralateral hemispheric hypoperfusion. This report expands RHOBTB2 spectrum to include hemiplegic migraine and provides insight into the pathophysiology of hemiplegic attacks in this condition.

RHOBTB2-related paroxysmal hemiparesis: from alternating hemiplegia to hemiplegic migraine / Innocenti, A.; Garone, G.; Papetti, L.; Rossi Espagnet, C.; Carboni, A.; Parisi, P.; Valeriani, M.; Specchio, N.. - In: PARKINSONISM & RELATED DISORDERS. - ISSN 1873-5126. - 133:(2025). [10.1016/j.parkreldis.2025.107340]

RHOBTB2-related paroxysmal hemiparesis: from alternating hemiplegia to hemiplegic migraine

Garone G.
Conceptualization
;
Parisi P.
Supervision
;
2025

Abstract

We report a young patient harboring a RHOBTB2 likely pathogenic variant with recurrent episodes of headache, dysautonomia and hemiplegia consistent with hemiplegic migraine. Such episodes were responsive to flunarizine prophylaxis. Ictal MRI showed contralateral hemispheric hypoperfusion. This report expands RHOBTB2 spectrum to include hemiplegic migraine and provides insight into the pathophysiology of hemiplegic attacks in this condition.
2025
acute encephalopathic episodes; alternating hemiplegia; hemiplegic migraine; rhobtb2
01 Pubblicazione su rivista::01i Case report
RHOBTB2-related paroxysmal hemiparesis: from alternating hemiplegia to hemiplegic migraine / Innocenti, A.; Garone, G.; Papetti, L.; Rossi Espagnet, C.; Carboni, A.; Parisi, P.; Valeriani, M.; Specchio, N.. - In: PARKINSONISM & RELATED DISORDERS. - ISSN 1873-5126. - 133:(2025). [10.1016/j.parkreldis.2025.107340]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1735099
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