Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family

J Neurol Sci. 2017 Jan 15:372:128-130. doi: 10.1016/j.jns.2016.11.032. Epub 2016 Nov 15.

¹ Department of Neurology, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Nishi-ku, Niigata 950-2085, Japan. Electronic address: arika-ha@masa.go.jp.
² Department of Neurology, Nishi-Niigata Chuo National Hospital, 1-14-1 Masago, Nishi-ku, Niigata 950-2085, Japan.
³ Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, 1110 Shimokato, Chuo-Shi, Yamanashi 409-3898, Japan.
⁴ Department of Neurology, Kaetsu Hospital, 1459-1 Higashikanazawa, Akiha-ku, Niigata 956-0814, Japan.
⁵ Department of Molecular Genetics, Bioresource Science Branch, Center for Bioresources, Brain Research Institute, Niigata University, 1-757 Asahimachidori, Chuo-ku, Niigata 951-8585, Japan.

No abstract available

Keywords: KIF1A; SCA31; SPG30; Spastic paraplegia; Spinocerebellar ataxia.

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