Mutations in PEX10 are a cause of autosomal recessive ataxia.
Leuven, Belgium. In Ann Neurol, 2010
child and an adult of normal intelligence with progressive ataxia, axonal motor neuropathy, decreased vibration sense and cerebellar atrophy; 2 mutations in PEX10 found in child, c.992G>A and c.764_765insA, and in the adult, c.2T>C and c.790C>T
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Seattle, United States. In Unknown Journal, 2004
CLINICAL CHARACTERISTICS: Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) is a continuum of three phenotypes — Zellweger syndrome (ZS), the most severe; neonatal adrenoleukodystrophy (NALD); and infantile Refsum disease (IRD), the least severe — that were originally described before the biochemical and molecular bases of these disorders had been fully determined.