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Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene

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Title: Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene
Other Titles: Long-term follow up of AHC
Authors: Ito, Tomoshiro Browse this author
Narugami, Masashi Browse this author
Egawa, Kiyoshi Browse this author
Yamamoto, Hiroyuki Browse this author
Asahina, Naoko Browse this author
Kohsaka, Shinobu Browse this author
Ishii, Atsushi Browse this author
Hirose, Shinichi Browse this author
Shiraishi, Hideaki Browse this author →KAKEN DB
Keywords: Alternating hemiplegia of childhood
ATP1A3 gene
Long-term prognosis
Issue Date: Mar-2018
Publisher: Elsevier
Journal Title: Brain & development
Volume: 40
Issue: 3
Start Page: 226
End Page: 228
Publisher DOI: 10.1016/j.braindev.2017.11.007
PMID: 29269014
Abstract: Alternating hemiplegia of childhood (AHC) is a rare neurological disease mainly caused by mutations in the ATP1A3 gene and showing varied clinical severity according to genotype. Patients with a p.Gly755Ser (p.G755S) mutation, one of minor genotypes for AHC, were recently described as having a mild phenotype, although their long-term outcomes are still unclear due to the lack of long-term follow up. Here, we demonstrate the full clinical course of a 43-year-old female AHC patient with p.G755S mutation. Although her motor dysfunction had been relatively mild into her 30 s, she showed a subsequent severe aggravation of symptoms that left her bedridden, concomitant with a recent recurrence of seizure status. The seizures were refractory to anti-epileptic drugs, but administration of flunarizine improved seizures and the paralysis. Our case suggests that the phenotype of AHC with p.G755S mutation is not necessarily mild, despite such a presentation during the patient's younger years.
Rights: © 2018. This manuscript version is made available under the CC-BY-NC-ND 4.0 license
Type: article (author version)
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 白石 秀明

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