Novel <i>VRK1</i> Mutations in a Patient with Childhood-onset Motor Neuron Disease
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- Yamaura Genpei
- Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
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- Higashiyama Yuichi
- Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
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- Kusama Kaori
- Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
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- Kunii Misako
- Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
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- Tanaka Kenichi
- Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
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- Koyano Shigeru
- Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
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- Nakashima Mitsuko
- Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan Department of Biochemistry, Hamamatsu University School of Medicine, Japan
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- Tsurusaki Yoshinori
- Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
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- Miyake Noriko
- Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
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- Saitsu Hirotomo
- Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan Department of Biochemistry, Hamamatsu University School of Medicine, Japan
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- Iwahashi Yukiko
- Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
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- Joki Hideto
- Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
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- Matsumoto Naomichi
- Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
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- Doi Hiroshi
- Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
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- Tanaka Fumiaki
- Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, Japan
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Abstract
<p>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. </p>
Journal
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- Internal Medicine
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Internal Medicine 58 (18), 2715-2719, 2019-09-15
The Japanese Society of Internal Medicine