J Korean Neurol Assoc.
2011 Nov;29(4):356-360.
Cerebral Adrenomyeloneuropathy with Trp77-Leu82del Mutation in ABCD1 Gene
- Affiliations
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- 1Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea. bochoi@ewha.ac.kr
- 2Department of Biological Science, Kongju National University, Gongju, Korea.
- 3Department of Pathology, 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.
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