Clinical analysis in patients with SPG11 hereditary spastic paraplegia

Clinical analysis in patients with SPG11 hereditary spastic paraplegia

BackgroundTo analyze the clinical phenotype of hereditary spastic paraplegia (HSP) caused by SPG11 mutations (SPG11-HSP).MethodsAmong the 17 patients with sporadic HSP who performed whole exome sequencing analysis, six were diagnosed with SPG11-HSP. The clinical and radiologic findings and the resul...

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Bibliographic Details
Main Authors: You-Ri Kang, Tai-Seung Nam, Jae-Myung Kim, Kyung Wook Kang, Seong-Min Choi, Seung-Han Lee, Byeong C. Kim, Myeong-Kyu Kim
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Neurology
Subjects:
SPG11
spastic paraplegia
corpus callosum
magnetic resonance imaging
evoked potential (EP)
intellectual disabilities
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1198728/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1198728/full

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