Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an <i>ATP1A1</i> Variant
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- Okumura Gaku
- Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan
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- Nakamura Katsuya
- Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan Center for Medical Genetics, Shinshu University Hospital, Japan
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- Seyama Rie
- Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan Department of Obstetrics and Gynecology, Juntendo University, Japan
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- Uchiyama Yuri
- Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan Department of Rare Disease Genomics, Yokohama City University Hospital, Japan
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- Shinagawa Jun
- Department of Otorhinolaryngology Head and Neck Surgery, Shinshu University School of Medicine, Japan
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- Nishio Shinya
- Department of Otorhinolaryngology Head and Neck Surgery, Shinshu University School of Medicine, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Japan
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- Ikeda Junji
- Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan
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- Takayama Shohei
- Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan
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- Kodaira Minori
- Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan
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- Kosho Tomoki
- Center for Medical Genetics, Shinshu University Hospital, Japan Department of Medical Genetics, Shinshu University School of Medicine, Japan
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- Takumi Yutaka
- Department of Otorhinolaryngology Head and Neck Surgery, Shinshu University 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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- Sekijima Yoshiki
- Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan
抄録
<p>We encountered a 27-year-old Japanese woman with sensorineural deafness progressing to motor and sensory neuropathy. At 16 years old, she had developed weakness in her lower extremities and hearing impairment, which gradually deteriorated. At 22 years old, combined audiological, electrophysiological, and radiological examination results were consistent with auditory neuropathy spectrum disorder (ANSD). Genetic analyses identified a previously reported missense variant in the ATP1A1 gene (NM_000701.8:c.1799C>G, p.Pro600Arg). Although sensorineural deafness has been reported as a clinical manifestation of ATP1A1-related disorders, our case suggested that ANSD may underlie the pathogenesis of deafness in ATP1A1-related disorders. This case report broadens the genotype-phenotype spectrum of ATP1A1-related disorders. </p>
収録刊行物
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- Internal Medicine
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Internal Medicine 63 (7), 1005-1008, 2024-04-01
一般社団法人 日本内科学会