Cerebral Adrenomyeloneuropathy with Trp77-Leu82del Mutation in ABCD1 Gene
Journal of the Korean Neurological Association
;
: 356-360, 2011.
Artigo
em Coreano
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Medula Espinal
/
Doenças da Medula Espinal
/
Axônios
/
Éxons
/
Deleção de Sequência
/
Adrenoleucodistrofia
Limite:
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2011
Tipo de documento:
Artigo
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