Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln)

Introduction. Hereditary Spastic Paraplegia (HSP) is a rare hereditary disorder that primarily involves progressive spasticity of the legs (hamstrings, quadriceps, and calves). Methods. A 27-year-old gentleman was a fast runner and able to play soccer until age 9 when he developed slowly progressive...

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Bibliographic Details
Main Authors: Nivedita U. Jerath, Tiffany Grider, Michael E. Shy
Format: Article
Language:English
Published: Hindawi Limited 2015-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2015/496053