Hereditary spastic paraplegia type 11: Clinicogenetic lessons from 339 patients

•There is no mutational hot spot in the KIAA1840 gene.•The mutational spectrum of SPG11 is wide, and frameshift mutations are the most common type followed by nonsense mutations.•SPG11 exhibited significant clinical and genetic heterogeneity.•No clear genotype-phenotype correlation was observed. Her...

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Veröffentlicht in:	Journal of clinical neuroscience 2021-03, Vol.85, p.67-71
1. Verfasser:	Du, Juan
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Age of Onset Brain MRI Child Female Genetic Association Studies Genotype-phenotype correlation Hereditary spastic paraplegia Humans KIAA1840 Male Mutation Proteins - genetics Spastic Paraplegia, Hereditary - complications Spastic Paraplegia, Hereditary - genetics Spastic Paraplegia, Hereditary - pathology SPG11
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