Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy

Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy

Hereditary spastic paraplegias (HSP) are a rare heterogeneous group of inherited neurodegenerative diseases characterized by progressive lower extremity spasticity and weakness. Mutations of the kinesin family member 5A (KIF5A) gene lead to a spectrum of phenotypes ranging from spastic paraplegia ty...

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Bibliographic Details
Main Authors: Mathieu Cuchanski, Kelly Jo Baldwin
Format: Article
Language:English
Published: Karger Publishers 2018-07-01
Series:Case Reports in Neurology
Subjects:
Mutation
KIF5A
Hereditary spastic paraplegia
Axonal sensorimotor neuropathy
Online Access:https://www.karger.com/Article/FullText/490456

Internet

https://www.karger.com/Article/FullText/490456

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