Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype

J Neurol Sci. 2017 Apr 15:375:424-429. doi: 10.1016/j.jns.2017.02.058. Epub 2017 Feb 27.

Abstract

Peroxisome biogenesis factor 10 (PEX10) is involved in the import of peroxisomal matrix proteins, and the mutation of this gene causes 3 subtypes of peroxisome biogenesis disorders, namely Zellweger syndrome (severe), neonatal adrenoleukodystrophy (moderate) and an ataxic form (mild). Here, we report 3 siblings of the ataxic form with cerebellar ataxia, mild mental retardation, and 3 additional characteristic features: mydriasis, hyperreflexia and involuntary head movement. All 3 siblings are compound heterozygous for a previously reported mutation, c.2T>C (p.M1T), and a novel mutation, c.920G>A, causing a missense change (p.C307Y) located in the RING finger domain of PEX10. The present cases suggest that these PEX10 mutations involve not only cerebellar but also more multiple nervous systems including pupillary autonomic, pyramidal and extrapyramidal systems.

Keywords: Cerebellar ataxia; Compound heterozygote; Peroxisome biogenesis disorder; Peroxisome biogenesis factor 10 (PEX10); Point mutation; Zellweger syndrome.

MeSH terms

  • Adult
  • Cerebellar Ataxia / complications
  • Cerebellar Ataxia / diagnostic imaging
  • Cerebellar Ataxia / genetics*
  • DNA Mutational Analysis
  • Family Health*
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation / genetics*
  • Peroxins
  • Peroxisomal Disorders / complications
  • Peroxisomal Disorders / diagnostic imaging
  • Peroxisomal Disorders / genetics*
  • Phenotype
  • Receptors, Cytoplasmic and Nuclear / genetics*

Substances

  • PEX10 protein, human
  • Peroxins
  • Receptors, Cytoplasmic and Nuclear

Supplementary concepts

  • Peroxisome biogenesis disorders