가족성 편마비성 편두통 1례

• 영문명: A Case of Familial Hemiplegic Migraine
• 발행기관: 대한소아신경학회
• 저자명: 사공영(Young Sa-Kong) 이봉환(Bong Hwan Lee) 배상남(Sang Nam Bae) 이균우(Kyun Woo Lee) 남상욱(Sang Ook Nam)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제11권 제2호, 367~371쪽, 전체 5쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2003.11.30

국문 초록

저자들은 최근 편마비와 편두통을 보이는 엄마와 아들에게서 가족성 편마비성 편두통 1례를 경험하였기에 이를 문헌 고찰과 함게 보고하는 바이다.

영문 초록

Familial hemiplegic migraine(FHM) in an autosomal dominant subtype of migraine with aura, characterized by the occurrence of hemiplegia during the aura. Two subforms of FHM families exist; pure FHM in 80& and FHM families with cerebellar symptoms in 20%. Half of the known FHM families show genetic linkage to chromosome 19p13, and in these families FHM in caused by missense mutations in a neuronal P/Q type calcium channel alpha-1 subunit gene(CACNA1A gene). Linkages to 1q31 and 1q21-23 have also been established. Other families are linked neither to chromosome 19 nor 1. Clinical variabilities are partially associated with the various types of CACNA1A gene mutations. FHM is distinguished from more frequent migraine types by a clear, dominant inheritance pattern and the relative absense of other headache types. Further investigation of FHM will help to clarify the genetics of more common migraine. We describe a male patient with FHM with a brief review of the literature.

키워드

Familial hemiplegic migraine Mutations CACNA1A gene Chromosome