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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Detalles Bibliográficos
Autores principales: Simone, Marta, Trabacca, Antonio, Panzeri, Elena, Losito, Luciana, Citterio, Andrea, Bassi, Maria Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293196/
https://www.ncbi.nlm.nih.gov/pubmed/30581417
http://dx.doi.org/10.3389/fneur.2018.01078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293196/
https://www.ncbi.nlm.nih.gov/pubmed/30581417
http://dx.doi.org/10.3389/fneur.2018.01078

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