Journal
JOURNAL OF THE NEUROLOGICAL SCIENCES
Volume 375, Issue -, Pages 424-429Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.jns.2017.02.058
Keywords
Peroxisome biogenesis disorder; Peroxisome biogenesis factor 10 (PEX10); Compound heterozygote; Point mutation; Cerebellar ataxia; Zellweger syndrome
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Funding
- Ministry of Health, Labour and Welfare of Japan [25293202, 15K09316, 15K15527, 15K21181]
- Grants-in-Aid for Scientific Research [16K09963, 15K15389] Funding Source: KAKEN
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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, c920G>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. (C) 2017 Elsevier B.V. All rights reserved.
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