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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Detalles Bibliográficos
Autores principales: Cuchanski, Mathieu, Baldwin, Kelly Jo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062669/
https://www.ncbi.nlm.nih.gov/pubmed/30057544
http://dx.doi.org/10.1159/000490456
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author Cuchanski, Mathieu
Baldwin, Kelly Jo
author_facet Cuchanski, Mathieu
Baldwin, Kelly Jo
author_sort Cuchanski, Mathieu
collection PubMed
description 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.
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spelling pubmed-60626692018-07-27 Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy Cuchanski, Mathieu Baldwin, Kelly Jo Case Rep Neurol Case Report 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. S. Karger AG 2018-07-04 /pmc/articles/PMC6062669/ /pubmed/30057544 http://dx.doi.org/10.1159/000490456 Text en Copyright © 2018 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/4.0/ This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.
spellingShingle Case Report
Cuchanski, Mathieu
Baldwin, Kelly Jo
Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy
title Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy
title_full Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy
title_fullStr Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy
title_full_unstemmed Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy
title_short Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy
title_sort mutation in kif5a c.610c>t causing hereditary spastic paraplegia with axonal sensorimotor neuropathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062669/
https://www.ncbi.nlm.nih.gov/pubmed/30057544
http://dx.doi.org/10.1159/000490456
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