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Hemiplegic Migraine Associated With PRRT2 Variations: A Clinical and Genetic Study
Florence Riant1, Caroline Roos2, Agathe Roubertie2
1From the Service de Génétique Moléculaire (F.R., C. Barbance, J.H., E.T.-L.), Hôpital Saint-Louis, Assistance Publique des Hôpitaux de Paris; INSERM UMR-S1141 (F.R., E.T.-L.), Université Paris; Emergency Headache Centre (C. Roos), Lariboisière Hospital, Paris; INM (A.R.), Univ Montpellier, INSERM, CHU Montpellier, Département de Neuropédiatrie; Service de Neurologie Pédiatrique (S.A.), Hôpital Robert Debré, Assistance Publique des Hôpitaux de Paris; Service de Neurologie et Pathologie du Mouvement (G.B.), CHRU de Lille; Pain Department (M.B., A. Donnet, S.R.), FHU INNOVPAIN, Hôpital La Timone, Marseille; Equipe Douleur et Soins Palliatifs Pédiatriques (C. Boulanger), Hôpital des Enfants, CHU Toulouse; Service de Neuropédiatrie (A.C.), Centre Hospitalier d'Arras; Service de Pédiatrie-Néonatologie du CH Remiremont (F.C.); Service de Neurologie Pédiatrique (E.C.), Hôpital des Enfants, CHU de Toulouse; Service de Neuropédiatrie (J.-C.C.), Hôpital Roger-Salengro, CHRU de Lille; Service de Neuropédiatrie (A. Defo), CH de Cayenne, Guyane; Department of Neurology (G.D.), Hospices Civils de Lyon; Lyon Neuroscience Research Center (CRNL) (G.D.), Brain Dynamics and Cognition Team (Dycog), INSERM U1028, CNRS UMR5292; Neurology Department (N. Gaillard, A. Ducros), Montpellier University Hospital; Department of Neurology (E.M.), Rouen University Hospital; Service de Neurologie (N. Guy), CHU Clermont-Ferrand; Service de Pédiatrie (S.L.), Centre Hospitalier d'Avignon; Service de Pédiatrie et Unité d'Urgence Pédiatrique (L.L.M.), Centre Hospitalier de Cornouaille, Quimper; Centre d'Evaluation et de Traitement de la Douleur dans le service de Neurochirurgie (C.L.), CHU de Lille; Service de Neurologie Centre Hospitalier de Narbonne (C.R.); Service de Neurologie Vasculaire (C. Rey), CHU Timone, Marseille; Centre de Génétique et Centre de Référence des Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est (C.T.), Centre Hospitalier Universitaire Dijon; Département de Neurologie (F.V.), Centre Hospitalier Intercommunal d'Aix-Pertuis, Aix-en-Provence; and Charles Coulomb Laboratory (A. Ducros), UMR 5221 CNRS-UM, Montpellier University, France florence.riant@aphp.fr.
Background And Objective:
PRRT2 variants have been reported in a few cases of patients with hemiplegic migraine. To clarify the role of PRRT2 in familial hemiplegic migraine, we studied this gene in a large cohort of affected probands.
Methods:
PRRT2 was analyzed in 860 probands with hemiplegic migraine, and PRRT2 variations were identified in 30 probands. Genotyping of relatives identified a total of 49 persons with variations whose clinical manifestations were detailed.
Results:
PRRT2 variations were found in 12 of 163 probands who previously tested negative for CACNA1A, ATP1A2, and SCN1A variations and in 18 of 697 consecutive probands screened simultaneously on the 4 genes. In this second group, pathogenic variants were found in 105 individuals, mostly in ATP1A2 (42%), followed by CACNA1A (26%), PRRT2 (17%), and SCN1A (15%). The PRRT2 variations included 7 distinct variants, 5 of which have already been described in persons with paroxysmal kinesigenic dyskinesia and 2 new variants. Eight probands had a deletion of the whole PRRT2 gene. Among the 49 patients with variations in PRRT2, 26 had pure hemiplegic migraine and 16 had hemiplegic migraine associated with another manifestation: epilepsy (8), learning disabilities (5), hypersomnia (4), or abnormal movement (3). Three patients had epilepsy without migraine: 2 had paroxysmal kinesigenic dyskinesia without migraine, and 1 was asymptomatic.
Discussion:
PRRT2 should be regarded as the fourth autosomal dominant gene for hemiplegic migraine and screened in any affected patient, together with the 3 other main genes. Further studies are needed to understand how the same loss-of-function PRRT2 variations can lead to a wide range of neurologic phenotypes, including paroxysmal movement disorder, epilepsy, learning disabilities, sleep disorder, and hemiplegic migraine.
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