与ATP1A2基因新突变相关的家族性基底型偏头痛。

Familial basilar migraine associated with a new mutation in the ATP1A2 gene.

作者信息

Ambrosini A, D'Onofrio M, Grieco G S, Di Mambro A, Montagna G, Fortini D, Nicoletti F, Nappi G, Sances G, Schoenen J, Buzzi M G, Santorelli F M, Pierelli F

机构信息

Headache Clinic, INM Neuromed, Pozzilli, Italy.

出版信息

Neurology. 2005 Dec 13;65(11):1826-8. doi: 10.1212/01.wnl.0000187072.71931.c0.

DOI:10.1212/01.wnl.0000187072.71931.c0

PMID:16344534

Abstract

Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) are phenotypically similar subtypes of migraine with aura, differentiated only by motor symptoms, which are absent in BM. Mutations in CACNA1A and ATP1A2 have been found in FHM. The authors detected a novel mutation in the ATP1A2 gene (R548H) in members of a family with BM, suggesting that BM and FHM may be allelic disorders.

摘要

基底型偏头痛（BM）、家族性偏瘫性偏头痛（FHM）和散发性偏瘫性偏头痛（SHM）是偏头痛伴先兆的表型相似的亚型，仅通过运动症状进行区分，而BM不存在运动症状。在FHM中已发现CACNA1A和ATP1A2基因发生突变。作者在一个患有BM的家族成员中检测到ATP1A2基因的一个新突变（R548H），提示BM和FHM可能是等位基因疾病。