A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration.

Journal article

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 the ALD gene. This is the first mutation analysis to be reported in this unusual...

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Authors: Dunne, E; Hyman, N; Huson, S; Németh, A

• Publication status: Published
• Publisher: Lippincott Williams and Wilkins
• Journal: Annals of neurology
• Volume: 45
• Issue: 5
• Pages: 652-655
• Publication date: 1999-05-01
• DOI: 10.1002/1531-8249(199905)45:5<652::aid-ana14>3.0.co;2-m
• EISSN: 1531-8249
• ISSN: 0364-5134
• Language: English
• Keywords: Adrenoleukodystrophy; Male; Point Mutation; Genetic Linkage; Humans; X Chromosome; Middle Aged; Spinocerebellar Degenerations; Phenotype; Pedigree