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

Alice Innocenti¹, Giacomo Garone², Laura Papetti³, Camilla Rossi Espagnet⁴, Alessia Carboni⁴, Pasquale Parisi⁵, Massimiliano Valeriani⁶, Nicola Specchio⁷

Affiliations

¹ Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies, EpiCARE, Rome, Italy.
² Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies, EpiCARE, Rome, Italy; Department of Neuroscience, Mental Health and Sensory Organs, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy. Electronic address: giacomo.garone@opbg.net.
³ Developmental Neurology, Bambino Gesù Children' s Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy.
⁴ Diagnostic and Interventional Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, Rome, 00165, Italy.
⁵ Department of Neuroscience, Mental Health and Sensory Organs, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.
⁶ Developmental Neurology, Bambino Gesù Children' s Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy; Systems Medicine Department, Tor Vergata University of Rome, Italy.
⁷ Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies, EpiCARE, Rome, Italy; University Hospitals KU Leuven, Belgium.

PMID: 40007339
DOI: 10.1016/j.parkreldis.2025.107340

Case Reports

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

Alice Innocenti et al. Parkinsonism Relat Disord. 2025 Apr.

. 2025 Apr:133:107340.

doi: 10.1016/j.parkreldis.2025.107340. Epub 2025 Feb 14.

Authors

Alice Innocenti¹, Giacomo Garone², Laura Papetti³, Camilla Rossi Espagnet⁴, Alessia Carboni⁴, Pasquale Parisi⁵, Massimiliano Valeriani⁶, Nicola Specchio⁷

Affiliations

¹ Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies, EpiCARE, Rome, Italy.
² Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies, EpiCARE, Rome, Italy; Department of Neuroscience, Mental Health and Sensory Organs, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy. Electronic address: giacomo.garone@opbg.net.
³ Developmental Neurology, Bambino Gesù Children' s Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy.
⁴ Diagnostic and Interventional Neuroradiology Unit, Imaging Department, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, Rome, 00165, Italy.
⁵ Department of Neuroscience, Mental Health and Sensory Organs, Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.
⁶ Developmental Neurology, Bambino Gesù Children' s Hospital, IRCCS, Piazza di Sant'Onofrio 4, 00165, Rome, Italy; Systems Medicine Department, Tor Vergata University of Rome, Italy.
⁷ Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network on Rare and Complex Epilepsies, EpiCARE, Rome, Italy; University Hospitals KU Leuven, Belgium.

PMID: 40007339
DOI: 10.1016/j.parkreldis.2025.107340

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.

Keywords: Acute encephalopathic episodes; Alternating hemiplegia; Hemiplegic migraine; RHOBTB2.

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Conflict of interest statement

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

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