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A Fine Motor Task to Study Joint Kinematics in a Preclinical Model of Neurodegenerative Disease
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A case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction.

Seunguk Jung1, Jong Won Chung2, Ji Young Yun2

  • 1Department of Neurology, Gyeongsang National University School of Medicine, Jinju, Korea.

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|May 29, 2014
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Summary

X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder. This case highlights X-ALD presenting with cerebellar dysfunction, a seldom-seen manifestation of the disease.

Keywords:
Olivopontocerebellar degenerationPhenotypeX-linked adrenoleukodystrophy

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Area of Science:

  • Neurogenetics
  • Neurology
  • Rare diseases

Background:

  • X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder affecting the nervous system and adrenal cortex.
  • Clinical presentations vary, including cerebral and milder spinal cord forms.
  • Cerebellar involvement is an uncommon manifestation of X-ALD.

Purpose of the Study:

  • To report a rare case of X-ALD presenting with progressive cerebellar dysfunction.
  • To compare this case with similar presentations in the literature.
  • To increase awareness of atypical X-ALD phenotypes.

Main Methods:

  • Case report of a patient with X-ALD.
  • Clinical and radiological assessment of cerebellar dysfunction.
  • Literature review of X-ALD with cerebellar involvement.

Main Results:

  • The patient exhibited progressive cerebellar symptoms mimicking olivopontocerebellar degeneration.
  • Cerebellar signs were the primary neurological deficit.
  • Literature review identified limited similar cases.

Conclusions:

  • X-ALD can present with significant cerebellar dysfunction, a rare but possible phenotype.
  • Cerebellar presentations of X-ALD may be misdiagnosed as other neurodegenerative disorders.
  • Recognition of this rare presentation is crucial for timely diagnosis and management of X-ALD.