Article
Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Mar 2021
Du Juan
Abstract excerpt
Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal recessive hereditary spastic paraplegia (HSP), to date, there are more than 181 different KIAA1840 gene mutations detected, and yet the genetic landscape of SPG11 is far from complete. To find the clinical and genetic characteristics of SPG11, we performed a reanalysis of the clinical features and genotype-phenotype correlations...
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