Cerebral Adrenomyeloneuropathy with Trp77-Leu82del Mutation in ABCD1 Gene
Journal of the Korean Neurological Association
;
: 356-360, 2011.
Article
in Korean
| WPRIM
| ID: wpr-109589
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Spinal Cord
/
Spinal Cord Diseases
/
Axons
/
Exons
/
Sequence Deletion
/
Adrenoleukodystrophy
Limits:
Humans
/
Male
Language:
Korean
Journal:
Journal of the Korean Neurological Association
Year:
2011
Type:
Article
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