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Adrenomyeloneuropathy: Report of a New Mutation in a French Canadian Female

Published online by Cambridge University Press:  02 December 2014

Annie Dionne ,
Denis Brunet ,
Alexander McCampbell  and
Nicolas Dupré
Annie Dionne
Affiliation:
Département des Sciences Neurologiques, CHAUQ - Hôpital Enfant-Jésus, Montreal, QC, Canada
Denis Brunet
Affiliation:
Département des Sciences Neurologiques, CHAUQ - Hôpital Enfant-Jésus, Montreal, QC, Canada
Alexander McCampbell
Affiliation:
Department of Neurology, Massachusetts General Hospital, Charlestown, MA, USA
Nicolas Dupré
Affiliation:
Département des Sciences Neurologiques, CHAUQ - Hôpital Enfant-Jésus, and Department of Neurology and Neurosurgery, McGill University, Centre for Research in Neurosciences, Montreal General Hospital, Montreal, QC, Canada
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Abstract:

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Background:

X-linked adrenoleukodystrophy is a peroxisomial disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy is the second most frequent phenotype (25-46%) of this disease and classically presents in adulthood with spastic paraparesis. Female heterozygotes can be symptomatic, but they are frequently misdiagnosed as having multiple sclerosis.

Case report:

We report a novel missense mutation in the ABCD1 gene in a 47-year-old French-Canadian female with spastic paraparesis and no confirmed family history of X-linked adrenoleukodystrophy. The mutation is located on exon 1 and causes the amino acid substitution of a valine for an alanine in a region of the protein highly conserved between mouse and man.

Conclusion:

Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women. This is an initial report of an ABCD1 gene mutation in the French-Canadian population, which should lead to the recognition of other cases in the future.

Résumé:

RÉSUMÉ:Introduction:

L’adrénoleucodystrophie liée à l’X est une maladie peroxisomiale causée par une mutation du gène ABCD1. L’adrénomyéloneuropathie en est le deuxième phénotype le plus fréquent (25-46%) et sa manifestation classique à l’âge adulte est une paraparésie spastique. Même les femmes hétérozygotes peuvent être symptomatiques et chez elles un diagnostic erroné de sclérose en plaques est posé fréquemment.

Observation:

Nous rapportons une nouvelle mutation faux-sens du gène ABCD1 chez une Canadienne française de 47 ans atteinte de paraparésie spastique, sans histoire familiale confirmée d’adrénoleucodystrophie. La mutation, située dans l’exon 1, est une substitution d’un seul acide aminé, soit d’une valine par une alanine, dans une région de la protein hautement conservée entre l’homme et la souris.

Conclusion:

L’adrénomyéloneuropathie doit être considérée dans le diagnostic différentiel de la paraparésie spastique chez l’homme et chez la femme. Il s’agit de la première fois qu’une mutation dans le gène ABCD1 est rapportée dans la population canadienne-française, ce qui devrait aider à l’identification d’autres cas à l’avenir.

Type
Case Reports
Information
Canadian Journal of Neurological Sciences , Volume 32 , Issue 2 , May 2005 , pp. 261 - 263
Copyright
Copyright © The Canadian Journal of Neurological 2005

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