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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 | | Flunarizine | | ATP1A3 gene | | Epilepsy | | 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 http://creativecommons.org/licenses/by-nc-nd/4.0/ | | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| Type: | article (author version) |
| URI: | http://hdl.handle.net/2115/72731 |
| 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)
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Submitter: 白石 秀明
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