Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

Acta Neuropathol Commun. 2020 Aug 12;8(1):134. doi: 10.1186/s40478-020-01008-2.

¹ Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan. riesaito@bri.niigata-u.ac.jp.
² Department of Molecular Genetics, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
³ Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan. tadamari@bri.niigata-u.ac.jp.
⁴ Department of Neurology, Sado General Hospital, 161 Chigusa, Sado, Niigata, 952-1209, Japan.
⁵ Department of Neurology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.
⁶ Department of Pathology, Brain Research Institute, Niigata University, 1-757 Asahimachi, Chuo-ku, Niigata, 951-8585, Japan.

No abstract available

Keywords: Autosomal recessive cerebellar ataxia; CHP1; Middle-aged onset; NHE1; Neuropathology.

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