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How to Detect Isolated PEX10-Related Cerebellar Ataxia?

Esmeralda Nava1, Britta Hartmann2, Larissa Boxheimer3

  • 1Department of Pediatric Neurology, Cantonal Hospital Aarau, Aarau, Switzerland.

Neuropediatrics
|January 17, 2022
PubMed
Summary
This summary is machine-generated.

This study identifies PEX10 gene variants causing cerebellar ataxia in a child. Elevated phytanic acid and very-long-chain fatty acid ratios suggest PEX10-related disorders require specific metabolic screening.

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Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Background:

  • Cerebellar ataxia is a debilitating neurological disorder.
  • Early diagnosis is crucial for managing treatable forms of ataxia.
  • Peroxisomal disorders can present with neurological symptoms.

Observation:

  • A 4-year-old boy presented with cerebellar ataxia and atrophy.
  • Metabolic tests showed elevated phytanic acid and very-long-chain fatty acid (VLCFA) ratios, but normal absolute VLCFA levels.
  • Genetic analysis revealed biallelic PEX10 variants.

Findings:

  • The patient exhibited peroxisomal mosaicism and a general catalase import deficiency.
  • A novel elongated peroxisome morphology was observed in PEX10-related ataxia.
  • Literature review identified 14 additional PEX10-related ataxia patients with similar early-onset symptoms.

Implications:

  • PEX10 gene variants are a cause of early-onset cerebellar ataxia.
  • Measuring phytanic acid and VLCFA ratios should be considered in metabolic screening for unexplained ataxias.
  • Identifying peroxisomal dysfunction aids in diagnosing and managing rare genetic disorders.