Cerebral Adrenomyeloneuropathy with Trp77-Leu82del Mutation
in ABCD1 Gene

J Korean Neurol Assoc > Volume 29(4); 2011 > Article

Journal of the Korean Neurological Association 2011;29(4): 356-360.

ABCD1 유전자 Trp77-Leu82del 돌연변이가 확인된 대뇌부신척수신경병증

이규선, 박은경 현영세 a 이혜진 a 정기화 a 구혜수 b 최경규 박기덕 최병옥

이화여자대학교 의학전문대학원 신경과학교실, 공주대학교 자연과학대학 생명과학교실 a , 이화여자대학교 의학전문대학원 병리학교실 b

Cerebral Adrenomyeloneuropathy with Trp77-Leu82del Mutation in ABCD1 Gene

Kyu Sun Lee

Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea Department of Biological Science a , Kongju National University, Gongju, Korea Department of Pathology b , Ewha Womans University School of Medicine, Seoul, Korea

Abstract

Cerebral adrenomyeloneuropathy is a subtype of X-linked adrenoleukodystrophy with a mutation of ABCD1; however, there have been no reported cases of cerebral adrenomyeloneuropathy with myelopathy. Here we report a 20-year-old male cerebral adrenomyeloneuropathy patient with myelopathy harboring a deletion mutation of c.225-242 (Trp77- Leu82del) from exon 1 of ABCD1. His spinal cord MRI revealed high signal intensities in the cervical spinal cord. Electrophysiological and histopathologic studies revealed mixed axonal and demyelinating neuropathy. Key Words: Adrenomyeloneuropathy, Adrenoleukodystrophy, ABCD1