title: A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration.
abstract: 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 phenotypic variant of ALD and the first deletion to be reported in exon 2.
mesh_terms: D000326:Adrenoleukodystrophy / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D013132:Spinocerebellar Degenerations / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*