Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease
Genpei YamauraYuichi HigashiyamaKaori KusamaMisako KuniiKenichi TanakaShigeru KoyanoMitsuko NakashimaYoshinori TsurusakiNoriko MiyakeHirotomo SaitsuYukiko IwahashiHideto JokiNaomichi MatsumotoHiroshi DoiFumiaki Tanaka
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JOURNALS OPEN ACCESS

2019 Volume 58 Issue 18 Pages 2715-2719

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Abstract

A 24-year-old Japanese man exhibited slowly progressive gait disturbance from childhood to young adulthood. Physical and physiological examinations showed the involvement of both upper and lower motor neurons, fulfilling the diagnostic criteria for amyotrophic lateral sclerosis (ALS). Mild cognitive impairment and subclinical sensory involvement were also observed. A genetic analysis revealed novel compound heterozygous mutations, c.767C>T (p.Thr256Ile) and c.800A>G (p.Asp267Gly), in the vaccinia-related kinase 1 gene (VRK1). This is the first report of a Japanese patient with a motor neuron disease phenotype caused by VRK1 mutations. This diagnosis should be considered in atypical cases of juvenile-onset and slowly progressive types of motor neuron disease.

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© 2019 by The Japanese Society of Internal Medicine
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