Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy

Sato Suzuki-Muromoto, Rika Kosaki, Kenjiro Kosaki, Masaya Kubota

Research output: Contribution to journalArticle

Abstract

Objective: To understand the clinical characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to examine the efficacy of preventive treatment. Methods: Using the literature, we investigated clinical details of FHM in 3 generations of patients with a PRRT2 mutation and compared them with those in 17 patients with the same mutation from 6 families. Results: In most of the affected patients, the onset was observed during the teen years. Complicated phenotypes tended to be shared in each family, and five patients showed spontaneous remission. With regard to treatment, low-dose carbamazepine (CBZ) was effective in three patients. Conclusion: Considering the clinical features, we suggest that low-dose CBZ is efficacious for FHM treatment in patients with a PRRT2 mutation. The treatment duration should be carefully considered because some patients show spontaneous remission. More accumulated data from familial cases might help elucidate PRRT2 function and establish standard treatment for FHM.

Original languageEnglish
JournalBrain and Development
DOIs
Publication statusAccepted/In press - 2020 Jan 1

Fingerprint

Migraine with Aura
Carbamazepine
Mutation
Spontaneous Remission
Therapeutics
Phenotype

Keywords

  • Familial hemiplegic migraine
  • Hemiplegic migraine
  • Migraine
  • PRRT2

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Familial hemiplegic migraine with a PRRT2 mutation : Phenotypic variations and carbamazepine efficacy. / Suzuki-Muromoto, Sato; Kosaki, Rika; Kosaki, Kenjiro; Kubota, Masaya.

In: Brain and Development, 01.01.2020.

Research output: Contribution to journalArticle

@article{c999ce0384b84e479426572c49428ddb,
title = "Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy",
abstract = "Objective: To understand the clinical characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to examine the efficacy of preventive treatment. Methods: Using the literature, we investigated clinical details of FHM in 3 generations of patients with a PRRT2 mutation and compared them with those in 17 patients with the same mutation from 6 families. Results: In most of the affected patients, the onset was observed during the teen years. Complicated phenotypes tended to be shared in each family, and five patients showed spontaneous remission. With regard to treatment, low-dose carbamazepine (CBZ) was effective in three patients. Conclusion: Considering the clinical features, we suggest that low-dose CBZ is efficacious for FHM treatment in patients with a PRRT2 mutation. The treatment duration should be carefully considered because some patients show spontaneous remission. More accumulated data from familial cases might help elucidate PRRT2 function and establish standard treatment for FHM.",
keywords = "Familial hemiplegic migraine, Hemiplegic migraine, Migraine, PRRT2",
author = "Sato Suzuki-Muromoto and Rika Kosaki and Kenjiro Kosaki and Masaya Kubota",
year = "2020",
month = "1",
day = "1",
doi = "10.1016/j.braindev.2019.12.007",
language = "English",
journal = "Brain and Development",
issn = "0387-7604",
publisher = "Elsevier",

}

TY - JOUR

T1 - Familial hemiplegic migraine with a PRRT2 mutation

T2 - Phenotypic variations and carbamazepine efficacy

AU - Suzuki-Muromoto, Sato

AU - Kosaki, Rika

AU - Kosaki, Kenjiro

AU - Kubota, Masaya

PY - 2020/1/1

Y1 - 2020/1/1

N2 - Objective: To understand the clinical characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to examine the efficacy of preventive treatment. Methods: Using the literature, we investigated clinical details of FHM in 3 generations of patients with a PRRT2 mutation and compared them with those in 17 patients with the same mutation from 6 families. Results: In most of the affected patients, the onset was observed during the teen years. Complicated phenotypes tended to be shared in each family, and five patients showed spontaneous remission. With regard to treatment, low-dose carbamazepine (CBZ) was effective in three patients. Conclusion: Considering the clinical features, we suggest that low-dose CBZ is efficacious for FHM treatment in patients with a PRRT2 mutation. The treatment duration should be carefully considered because some patients show spontaneous remission. More accumulated data from familial cases might help elucidate PRRT2 function and establish standard treatment for FHM.

AB - Objective: To understand the clinical characteristics of familial hemiplegic migraine (FHM) caused by a PRRT2 mutation and to examine the efficacy of preventive treatment. Methods: Using the literature, we investigated clinical details of FHM in 3 generations of patients with a PRRT2 mutation and compared them with those in 17 patients with the same mutation from 6 families. Results: In most of the affected patients, the onset was observed during the teen years. Complicated phenotypes tended to be shared in each family, and five patients showed spontaneous remission. With regard to treatment, low-dose carbamazepine (CBZ) was effective in three patients. Conclusion: Considering the clinical features, we suggest that low-dose CBZ is efficacious for FHM treatment in patients with a PRRT2 mutation. The treatment duration should be carefully considered because some patients show spontaneous remission. More accumulated data from familial cases might help elucidate PRRT2 function and establish standard treatment for FHM.

KW - Familial hemiplegic migraine

KW - Hemiplegic migraine

KW - Migraine

KW - PRRT2

UR - http://www.scopus.com/inward/record.url?scp=85077277218&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85077277218&partnerID=8YFLogxK

U2 - 10.1016/j.braindev.2019.12.007

DO - 10.1016/j.braindev.2019.12.007

M3 - Article

AN - SCOPUS:85077277218

JO - Brain and Development

JF - Brain and Development

SN - 0387-7604

ER -