Adult-Onset Alexander Disease Mimicking Neuromyelitis Optica

Jung, Hyun-Jung; Jung, Hyun-Jung; Nam, Tai-Seung; Nam, Tai-Seung; Lee, Seung-Han; Lee, Seung-Han; Kim, Myeong-Kyu; Kim, Myeong-Kyu; Cho, Ki-Hyun; Cho, Ki-Hyun

J Mult Scler > Volume 3(1); 2012 > Article

Case Report

Journal of Multiple Sclerosis 2012;3(1):26-29.
Published online March 1, 2012.

시신경 척수염으로 오인된 알렉산더병

정현정, 정현정, 남태승, 남태승, 이승한, 이승한, 김명규, 김명규, 조기현, 조기현

화순전남대학교병원 신경과학교실,
전남대학교 의과대학 신경과학교실
화순전남대학교병원 신경과학교실,
전남대학교 의과대학 신경과학교실

Adult-Onset Alexander Disease Mimicking Neuromyelitis Optica

Hyun-Jung Jung, Hyun-Jung Jung, Tai-Seung Nam, Tai-Seung Nam, Seung-Han Lee, Seung-Han Lee, Myeong-Kyu Kim, Myeong-Kyu Kim, Ki-Hyun Cho, Ki-Hyun Cho

Department of Neurology, Chonnam National University Hwasun Hospital, Hwasun;
Department of Neurology, Chonnam National University Medical Schoola, Gwangju, Korea
Department of Neurology, Chonnam National University Hwasun Hospital, Hwasun;
Department of Neurology, Chonnam National University Medical Schoola, Gwangju, Korea

Abstract

"Alexander disease (AxD) has been grouped as the leukodystrophy that affects the white matter of central nervous system, and is caused by the mutation of glial fibrillary acidic protein gene.Adult-onset AxD manifests pseudobulbar signs, palatal myoclonus, spastic paralysis, or ataxia bythe involvement of medulla or spinal cord. Adult-onset AxD can be initially misdiagnosed as multiplesclerosis or tumor of brainstem and spinal cord. We report a case of genetically-proven adult-onsetAxD initially mimicking neuromyelitis optica.Journal of Multiple Sclerosis 3(1):26-29, 2012"

Key Words: Alexander disease, Glial fibrillary acidic protein, Neuromyelitis optica