A novel KIF5A gene variant causes spastic paraplegia and cerebellar ataxia

Mutations in the kinesin family member 5A (KIF5A) gene are mainly associated with autosomal dominant spastic paraplegia 10 (SPG10). The additional complicated symptoms of SPG10 commonly include a wide spectrum. However, cerebellar ataxia is only noticed in a very few patients. Herein, we described a...

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Detalles Bibliográficos
Autores principales: Qiu, Yusen, Zhong, Shanshan, Cong, Lu, Xin, Ling, Gao, Xuguang, Zhang, Jun, Hong, Daojun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243379/
https://www.ncbi.nlm.nih.gov/pubmed/30480035
http://dx.doi.org/10.1002/acn3.650

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6243379/
https://www.ncbi.nlm.nih.gov/pubmed/30480035
http://dx.doi.org/10.1002/acn3.650

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