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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. A novel point mutation in X-linked adrenoleukodystrophy presenting as a spinocerebellar degeneration. Dunne, E., Hyman, N.M., Huson, S.M., Németh, A.H. Ann. Neurol. (1999) [Pubmed]
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