Isolated Cerebellar Variant of Adrenoleukodystrophy With a De Novo Adenosine Triphosphate-Binding Cassette D1 (ABCD1) Gene Mutation

Yonsei Med J. 2014 Jul;55(4):1157-60. doi: 10.3349/ymj.2014.55.4.1157.

Abstract

X-linked adrenoleukodystrophy (X-ALD) shows a wide range of phenotypic expression, but clinical presentation as an isolated lesion of the cerebellar white matter and dentate nuclei has not been reported. We report an unusual presentation of X-ALD only with an isolated lesion of the cerebellar white matter and dentate nuclei. The proband, a 37-year-old man presented with bladder incontinence, slurred speech, dysmetria in all limbs, difficulties in balancing, and gait ataxia. Brain magnetic resonance imaging showed an isolated signal change of white matter around the dentate nucleus in cerebellum. With high level of very long chain fatty acid, gene study showed a de novo mutation in exon 1 at nucleotide position c.277_296dup20 (p.Ala100Cysfs*10) of the adenosine triphosphate-binding cassette D1 gene. It is advised to consider X-ALD as a differential diagnosis in patients with isolated cerebellar degeneration symptoms.

Keywords: ABCD1; X-linked adrenoleukodystrophy; cerebellar; very long chain fatty acid.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / blood
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Cerebellar Diseases / blood
  • Cerebellar Diseases / genetics*
  • Fatty Acids / blood
  • Humans
  • Male
  • Mutation

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Fatty Acids