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 i...

Full description

Saved in:
Bibliographic Details
Published in:Annals of neurology 1999-05, Vol.45 (5), p.652-655
Main Authors: Dunne, Eimear, Hyman, Nigel M., Huson, Susan M., Németh, Andrea H.
Format: Article
Language:English
Subjects:
Adrenoleukodystrophy - genetics
Biological and medical sciences
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
Genetic Linkage - genetics
Humans
Male
Medical sciences
Middle Aged
Neurology
Pedigree
Phenotype
Point Mutation - genetics
Spinocerebellar Degenerations - genetics
X Chromosome - genetics
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. Ann Neurol 1999;45:652–655
ISSN:0364-5134
1531-8249
DOI:10.1002/1531-8249(199905)45:5<652::AID-ANA14>3.0.CO;2-M