Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease

Genpei Yamaura; Yuichi Higashiyama; Kaori Kusama; Misako Kunii; Kenichi Tanaka; Shigeru Koyano; Mitsuko Nakashima; Yoshinori Tsurusaki; Noriko Miyake; Hirotomo Saitsu; Yukiko Iwahashi; Hideto Joki; Naomichi Matsumoto; Hiroshi Doi; Fumiaki Tanaka

doi:10.2169/internalmedicine.2126-18

CASE REPORTS

Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease

Genpei Yamaura, Yuichi Higashiyama, Kaori Kusama, Misako Kunii, Kenichi Tanaka, Shigeru Koyano, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Yukiko Iwahashi, Hideto Joki, Naomichi Matsumoto, Hiroshi Doi, Fumiaki Tanaka

Author information

Genpei Yamaura
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
Yuichi Higashiyama
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
Kaori Kusama
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
Misako Kunii
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
Kenichi Tanaka
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
Shigeru Koyano
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
Mitsuko Nakashima
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
Department of Biochemistry, Hamamatsu University School of Medicine, Japan
Yoshinori Tsurusaki
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
Noriko Miyake
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
Hirotomo Saitsu
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
Department of Biochemistry, Hamamatsu University School of Medicine, Japan
Yukiko Iwahashi
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
Hideto Joki
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
Naomichi Matsumoto
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
Hiroshi Doi
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
Fumiaki Tanaka
Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan

Keywords: motor neuron disease, amyotrophic lateral sclerosis, VRK1, childhood-onset

JOURNAL OPEN ACCESS

2019 Volume 58 Issue 18 Pages 2715-2719

DOI https://doi.org/10.2169/internalmedicine.2126-18

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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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