Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China - Dong, En-Lin; Wang, Chong; Wu, Shuang; Lu, Ying-Qian; Lin, Xiao-Hong; Su, Hui-Zhen; Zhao, Miao; He, Jin; Ma, Li-Xiang; Wang, Ning; Chen, Wan-Jin; Lin, Xiang (Molecular neurodegeneration, 2018)
Keywords: Adolescent; Adult; Asian Continental Ancestry Group - genetics; Ataxia; Autophagy; Child; Child, Preschool; China; Clinical features; CYP7B1 gene; Demographic aspects; Female; Fibroblasts; Founder effect; Gene mutations; Genes; Genetic analysis; Genetic aspects; Genetic susceptibility; Haplotypes; Hereditary spastic paraplegia; Hereditary spastic paraplegias; Heterogeneity; Humans; Infant; Infant, Newborn; Male; Membrane potential; Middle Aged; Mitochondria; Mutation; Mutational spectrum; Neurodegeneration; Neurodegenerative diseases; Next-generation sequencing; Organelles; Paralysis; Paralysis, Spastic; Pathogenesis; Phenotype; Phenotypes; Physiological aspects; Pyramidal tracts; Reactive oxygen species; Retrospective Studies; Risk factors; Spastic Paraplegia, Hereditary - genetics; Spastic Paraplegia, Hereditary - pathology; Spasticity; Young Adult; China; Hereditary spastic paraplegias; Heterogeneity; Clinical features; Mitochondria; Mutational spectrum; Founder effect; Autolysosomes