KIF5A and ALS2 Variants in a Family With Hereditary Spastic Paraplegia and Amyotrophic Lateral Sclerosis

This paper describes the clinical evolution and the novel genetic findings in a KIF5A mutated family previously reported as affected by spastic paraparesis only. The additional evidence we report here, a homozygous ALS2 mutation detected in the proband, and the clinical evolution observed in the aff...

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Bibliographic Details
Main Authors: Marta Simone, Antonio Trabacca, Elena Panzeri, Luciana Losito, Andrea Citterio, Maria Teresa Bassi
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-12-01
Series:Frontiers in Neurology
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2018.01078/full