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FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients

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Fig. 1

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Data will be available on request from the authors.

References

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Acknowledgements

We would like to thank all the enrolled patients and their families for their cooperation with daily clinical practice and this study, and Rie Nomachi for genetic analyses in Hokkaido University.

Funding

This work was supported by the Japan Agency for Medical Research and Development (AMED) under grant numbers JP23ek0109674, JP23ek0109549, JP23ek0109617, JP23ek0109648, JP23ek0109677 (N. Matsumoto); JSPS KAKENHI under grant numbers JP23H02829 (S. Miyatake) and JP21K07869 (E. Koshimizu); and the Takeda Science Foundation (N. Matsumoto); and the Research Committee on the Medical Basis of Motor Ataxias, Health and Labor Sciences Research Grants, The Ministry of Health, Labor and Welfare, Japan under grant numbers 23FC1010 (I. Yabe.)

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Authors and Affiliations

  1. Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Kita-15, Nishi-7, Kita-ku, Sapporo, 060-8638, Japan

    Masaaki Matsushima, Hiroaki Yaguchi, Akihiko Kudo, Shinichi Shirai & Ichiro Yabe

  2. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan

    Eriko Koshimizu, Satoko Miyatake & Naomichi Matsumoto

  3. Department of Neurology, Date Red Cross Hospital, Date, Japan

    Takeshi Matsuoka

  4. Department of Neurology, Japanese Red Cross Asahikawa Hospital, Asahikawa, Japan

    Shigehisa Ura

  5. Sapporo Neurology Hospital, Sapporo, Japan

    Atsushi Kawashima & Toshiyuki Fukazawa

  6. Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan

    Satoko Miyatake

Authors
  1. Masaaki Matsushima
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  2. Hiroaki Yaguchi
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  3. Eriko Koshimizu
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  4. Akihiko Kudo
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  5. Shinichi Shirai
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  6. Takeshi Matsuoka
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  7. Shigehisa Ura
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  8. Atsushi Kawashima
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  9. Toshiyuki Fukazawa
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  10. Satoko Miyatake
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  11. Naomichi Matsumoto
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  12. Ichiro Yabe
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Contributions

Drafting of the manuscript: M-M. Patient medical treatment: M-M, A-K, T-M, S-U, A-K, and T-F. Genetic analyses: E-K and S-M. Data analysis: M-M and A-K. Manuscript review for intellectual content: H-Y, E-K, T-M, S-U, S-M, N-M, and I-Y.

Corresponding author

Correspondence to Ichiro Yabe.

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Conflicts of interest

There were no financial, consulting, or personal relationships with other people or organizations that could influence our study.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained for all participants and the study was approved by the institutional review boards of Hokkaido University Hospital and Yokohama City University Faculty of Medicine.

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Matsushima, M., Yaguchi, H., Koshimizu, E. et al. FGF14 GAA repeat expansion and ZFHX3 GGC repeat expansion in clinically diagnosed multiple system atrophy patients. J Neurol (2024). https://doi.org/10.1007/s00415-024-12308-1

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  • DOI: https://doi.org/10.1007/s00415-024-12308-1

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