Cerebral Adrenomyeloneuropathy with Trp77-Leu82del Mutation in ABCD1 Gene
Journal of the Korean Neurological Association
;
: 356-360, 2011.
Article
Dans Coréen
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Moelle spinale
/
Maladies de la moelle épinière
/
Axones
/
Exons
/
Délétion de séquence
/
Adrénoleucodystrophie
Limites du sujet:
Humains
/
Mâle
langue:
Coréen
Texte intégral:
Journal of the Korean Neurological Association
Année:
2011
Type:
Article
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