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

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...

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Detalles Bibliográficos
Autores principales: Yamaura, Genpei, Higashiyama, Yuichi, Kusama, Kaori, Kunii, Misako, Tanaka, Kenichi, Koyano, Shigeru, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Miyake, Noriko, Saitsu, Hirotomo, Iwahashi, Yukiko, Joki, Hideto, Matsumoto, Naomichi, Doi, Hiroshi, Tanaka, Fumiaki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794182/
https://www.ncbi.nlm.nih.gov/pubmed/31178479
http://dx.doi.org/10.2169/internalmedicine.2126-18
Descripción
Sumario: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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