Literature DB >> 28017198

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 Hasegawa1, Ryoko Koike2, Kishin Koh3, Akio Kawakami4, Norikazu Hara5, Yoshihisa Takiyama3, Takeshi Ikeuchi5.   

Abstract

Entities:  

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

Mesh：

Substances：

Year:  2016        PMID： 28017198     DOI： 10.1016/j.jns.2016.11.032

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  3 in total

Review 1.  Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia.

Authors:  Dominik R Gabrych; Victor Z Lau; Shinsuke Niwa; Michael A Silverman
Journal:  Front Cell Neurosci       Date:  2019-09-26       Impact factor: 5.505

2.  Midbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunction.

Authors:  Ryohei Norioka; Keizo Sugaya; Aki Murayama; Tomoya Kawazoe; Shinsuke Tobisawa; Akihiro Kawata; Kazushi Takahashi
Journal:  Cerebellum Ataxias       Date:  2021-03-30

3.  Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.

Authors:  Lia Boyle; Lu Rao; Simranpreet Kaur; Xiao Fan; Caroline Mebane; Laura Hamm; Andrew Thornton; Jared T Ahrendsen; Matthew P Anderson; John Christodoulou; Arne Gennerich; Yufeng Shen; Wendy K Chung
Journal:  HGG Adv       Date:  2021-01-30
  3 in total

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