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KMID : 0359720110290040356
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Journal of the Korean Neurological Association
2011 Volume.29 No. 4 p.356 ~ p.360
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Cerebral Adrenomyeloneuropathy with Trp77-Leu82del Mutation in ABCD1 Gene
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Lee Kyu-Sun
Park Eun-Kyung
Hyun Young-Se
Lee Hae-Jin
Chung Ki-Wha
Koo Hae-Soo
Choi Kyoung-Gyu
Park Kee-Duk
Choi Byung-Ok
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Abstract
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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
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KEYWORD
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Adrenomyeloneuropathy, Adrenoleukodystrophy, ABCD1
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