Article
A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration.
Annals of neurology - 1 May 1999
Dunne E, Hyman N M, Huson S M, Németh A H
Abstract excerpt
X-linked adrenoleukodystrophy (ALD) usually presents in childhood as severe cerebral demyelination accompanied by axonal loss or in adults as a progressive spinal cord syndrome (adrenomyeloneuropathy). Rarely, patients present with adult onset spinocerebellar ataxia. We performed mutation analysis in a family with several members who had this rare phenotype and identified a single nucleotide deletion in exon 2 of...
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