Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.

ABSTRACT:

Background

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 this study, we aim to perform a comprehensive analysis of clinical phenotypes and genetic distributions in a large cohort of Chinese HSP patients, and to elucidate the primary pathogenesis in this population.

Methods

We firstly performed next-generation sequencing targeting 149 genes correlated with HSP in 99 index cases of our cohort. Multiplex ligation-dependent probe amplification testing was further carried out among those patients without known disease-causing gene mu

SUBMITTER: Dong EL 

PROVIDER: S-EPMC6035405 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature