Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.

Abstract

We describe a boy aged 2 years and 11 months with congenital hypomyelinating neuropathy attributable to a de novo heterozygous missense mutation of c.181 G>A (p.Asp61Asn) in the myelin protein zero gene. A nerve conduction study indicated markedly reduced motor conduction velocities in the upper and lower extremities. Stimuli of up to 50-100 mA were necessary for nerve activation, suggesting diseased nerves with greatly decreased excitability. A sural nerve biopsy revealed a marked loss of large myelinated fibers, the absence of myelin breakdown products, occasional basal lamina onion-bulb formations, and tomacula-like structures. The p.Asp61Asn mutation is novel in congenital hypomyelinating neuropathy, but was previously reported in a patient with Charcot-Marie-Tooth disease type 1.

• Authors: Takahiro Yonekawa, Hirofumi Komaki, Yuko Saito, Hiroshi Takashima, Masayuki Sasaki
• Journal: Pediatric neurology (Pediatr Neurol) Vol. 48 Issue 1 Pg. 59-62 (Jan 2013) ISSN: 1873-5150 [Electronic] United States
• PMID: 23290023 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 Elsevier Inc. All rights reserved.

Chemical References

• MPZ protein, human
• Myelin P0 Protein
• Aspartic Acid
• Asparagine

Topics

• Asparagine (genetics)
• Aspartic Acid (genetics)
• Charcot-Marie-Tooth Disease (genetics, pathology)
• Child, Preschool
• Humans
• Male
• Myelin P0 Protein (genetics)
• Sural Nerve (pathology, ultrastructure)