-
-
J Korean Neurol Assoc. 1997;15(2):403-412.
- A family with machado-joseph disease confirmed by gene analysis
-
Chul Hyoung Lyoo M.D., Yong Duk Kim M.D., Myung Sik Lee M.D.
-
Department of Neurology, Yongdong Severance Hospital, Yonsei Brain Research Center, Yonsei University College of Medicine
- 유전자 검사로 확진된 Machado-joseph disease가족
-
류형철, 김용덕, 이명식
-
영동세브란스병원 신경과. 연세 뇌 연구소. 연세대학교 의대
- Abstract
- The Machado Joseph disease(MJD) is a progressive neurodegenerative disease with an autosomal dominant inheritance. Patients affected by MJD may present variable combinations of cerebellar ataxia, ophthalmoplegia, pyramidal tract signs, extrapyramidal signs, and peripheral neuropathy. Once, MJD was thought to be limited to the Portuguese from Azores islands, However, since the association of expanded CAG trinucleotide repeat in chromosome 14q32.1 was identified in the MJD, the genetic study has enabled clinicians to make accurate diagnosis and the patients with MJD have been reported in the families from many different races. We report members of a family, presenting with variable combinations of gait ataxia, dysarthria, ophthalmoplegia, pyramidal and extrapyramidal signs. We performed a genetic study in 3 clinically affected and 4 asymptomatic family members. Five of the seven had abnormally expanded CAG repeat number (range 71-84) on the long arm of chromosome 14, compatible with MJD.
Keywords :
- 초록
-
