Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China

• Published in: Molecular neurodegeneration Vol. 13; no. 1; pp. 36 - 14
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 06.07.2018; BioMed Central; BMC
• Subjects: 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

Hereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegenerative disorders affecting the corticospinal tracts. To date, more than 78 HSP loci have been mapped to cause HSP. However, both the clinical and mutational spectrum of Chinese patients with HSP remained unclear. In thi...