-
-
J Korean Neurol Assoc. 2011;29(4):356-360.
- 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
- 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
- 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
Keywords :
- 초록
-
