Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.

[adrenomyeloneuropathy]

X-linked adrenoleukodystrophy is a peroxisomial disorder caused by mutations in the ABCD 1 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 .We report a novel missense mutation in the ABCD 1 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 .Adrenomyeloneuropathy must be considered in the differential diagnosis of spastic paraparesis in men or women . This is an initial report of an ABCD 1 gene mutation in the French -Canadian population , which should lead to the recognition of other cases in the future .

Diseases
Validation

Diseases presenting "mutations in the abcd1 gene" symptom

adrenomyeloneuropathy

x-linked adrenoleukodystrophy

zellweger syndrome

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