Congenital Hypomyelinating Neuropathy Attributable to a De Novo p.Asp61Asn Mutation of the Myelin Protein Zero Gene - 03/01/13
, Yuko Saito, MD, PhD b, Hiroshi Takashima, MD, PhD c, Masayuki Sasaki, MD, PhD a
Communications should be addressed to: Dr. Komaki; Department of Child Neurology; National Center of Neurology and Psychiatry; National Center Hospital; 4-1-1 Ogawa-Higashicho; Kodaira, Tokyo 187 8551, Japan.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.181G>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.
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Vol 48 - N° 1
P. 59-62 - janvier 2013 Retour au numéro
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