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The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan

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Acknowledgements

The authors appreciate Tomoko Ohnishi at Kagoshima University, for their great technical assistance. The authors are supported by Enago (www.enago.jp) for reviewing the English in this report. We appreciate the Division of Gene Research, Research Support Centre, Kagoshima University, for the use of their facilities.

Funding

This work was supported by Grants-in-Aid from the Research Committee of Ataxia, Health Labour Sciences Research Grant, the Ministry of Health, Labour and Welfare, Japan (20317603, 201610002B). This research is also supported by the Research program for conquering intractable disease from Japan agency for Medical Research and development (AMED) (201442014A, 201442071A, 17929553) and JSPS KAKENHI Grant Numbers JP18H02742, JP20K16604, JP21K15702, and JP21H02842.

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Authors and Affiliations

  1. Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan

    Masahiro Ando, Yujiro Higuchi, Mika Takeuchi, Akihiro Hashiguchi & Hiroshi Takashima

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  1. Masahiro Ando
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  2. Yujiro Higuchi
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  3. Mika Takeuchi
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  4. Akihiro Hashiguchi
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  5. Hiroshi Takashima
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Correspondence to Masahiro Ando.

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This study was approved by the institutional review board of Kagoshima University. The proband and family members provided informed consent for participation in the study and genetic analysis.

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Ando, M., Higuchi, Y., Takeuchi, M. et al. The first case of infantile-onset multisystem neurologic, endocrine, and pancreatic disease caused by novel PTRH2 mutation in Japan. Neurol Sci 43, 2133–2136 (2022). https://doi.org/10.1007/s10072-021-05817-8

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  • DOI: https://doi.org/10.1007/s10072-021-05817-8

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