• Internal medicine · Apr 2024

    Case Reports

    Auditory Neuropathy Spectrum Disorder Progressing with Motor and Sensory Neuropathy Caused by an ATP1A1 Variant.

    • Gaku Okumura, Katsuya Nakamura, Rie Seyama, Yuri Uchiyama, Jun Shinagawa, Shinya Nishio, Junji Ikeda, Shohei Takayama, Minori Kodaira, Tomoki Kosho, Yutaka Takumi, Naomichi Matsumoto, and Yoshiki Sekijima.
    • Department of Medicine (Neurology & Rheumatology), Shinshu University School of Medicine, Japan.
    • Intern. Med. 2024 Apr 1; 63 (7): 100510081005-1008.

    AbstractWe 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.

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