%0 Journal Article
%T Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy
%A Kelly Jo Baldwin
%A Mathieu Cuchanski
%J Archive of "Case Reports in Neurology".
%D 2018
%R 10.1159/000490456
%X 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 type 10 to Charcot-Marie Tooth Disease type 2. We report the second known case of a mutation in the KIF5A gene at c.610C>T presenting with HSP plus an axonal sensorimotor neuropathy
%K Mutation
%K KIF5A
%K Hereditary spastic paraplegia
%K Axonal sensorimotor neuropathy
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062669/