Cerebral Adrenomyeloneuropathy with Trp77-Leu82del Mutation in ABCD1 Gene.
- Author:
Kyu Sun LEE
1
;
Eun Kyung PARK
;
Young Se HYUN
;
Hae Jin LEE
;
Ki Wha CHUNG
;
Hea Soo KOO
;
Kyoung Gyu CHOI
;
Kee Duk PARK
;
Byung Ok CHOI
Author Information
1. Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea. bochoi@ewha.ac.kr
- Publication Type:Case Report
- Keywords:
Adrenomyeloneuropathy;
Adrenoleukodystrophy;
ABCD1
- MeSH:
Adrenoleukodystrophy;
Axons;
Exons;
Humans;
Male;
Sequence Deletion;
Spinal Cord;
Spinal Cord Diseases;
Young Adult
- From:Journal of the Korean Neurological Association
2011;29(4):356-360
- CountryRepublic of Korea
- Language:Korean
-
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.
