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

Arika Hasegawa,Ryoko Koike,Kishin Koh,Akio Kawakami,Norikazu Hara,Yoshihisa Takiyama,Takeshi Ikeuchi

Journal of the Neurological Sciences（2017）

Cited 8|Views3

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Abstract

•We report coexistence of two kinds of mutations for SPG30 and SCA31 in a family.•A novel homozygous missense p.S242R mutation in KIF1A was identified in index case.•The patient with SPG30 and SCA31 showed long disease duration and mental retardation.

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Key words

Spastic paraplegia,SPG30,KIF1A,Spinocerebellar ataxia,SCA31

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