Spinocerebellar Variant of Adrenoleukodystrophy With a Novel ABCD1 Gene Mutation

J Neurol Sci. 2010 Mar 15;290(1-2):163-5. doi: 10.1016/j.jns.2009.12.002. Epub 2009 Dec 29.

Abstract

X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, and clinical presentation as adult-onset spinocerebellar ataxia has been rarely reported. Here, we report a Taiwanese family with X-ALD. The proband, a 37-year-old man presented with dysarthria, cerebellar ataxia and mild spastic paraparesis, and had atrophy of cerebellum and upper cervical cord on MRI. One of his nephews, a 9-year-old boy had a classic childhood cerebral ALD phenotype. This family harbors a novel deletion of 1 base pair in exon 8 at nucleotide position 2245 (2245delA) in the ABCD1 gene. This is the first report of the 2245delA mutation presenting with a spinocerebellar variant of X-ALD.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / pathology*
  • Adrenoleukodystrophy / physiopathology
  • Adult
  • Asian Continental Ancestry Group / genetics
  • Cerebellar Diseases / genetics
  • Cerebellar Diseases / pathology
  • Cerebellar Diseases / physiopathology
  • Cerebellum / pathology
  • Cerebellum / physiopathology
  • Child
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Gene Deletion
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Pedigree
  • Spinal Cord / pathology
  • Spinal Cord / physiopathology
  • Spinal Cord Diseases / genetics
  • Spinal Cord Diseases / pathology
  • Spinal Cord Diseases / physiopathology
  • Spinocerebellar Degenerations / genetics*
  • Spinocerebellar Degenerations / pathology*
  • Spinocerebellar Degenerations / physiopathology
  • Taiwan

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Genetic Markers