Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study.

ABSTRACT:

Introduction

Hereditary spastic paraplegias (HSPs) are uncommon but not rare neurodegenerative diseases. More than 100 pathogenic genes and loci related to spastic paraplegia symptoms have been reported. HSPs have the same core clinical features, including progressive spasticity in the lower limbs, though HSPs are heterogeneous (eg, clinical signs, MRI features, gene mutation). The age of onset varies greatly, from infant to adulthood. In addition, the slow and variable rates of disease progression in patients with HSP represent a substantial challenge for informative assessment of therapeutic efficacy. To address this, we are undertaking a prospective cohort study to investigate genetic-clinical characteristics, find surrogates for monitoring disease progress and identify clinical

SUBMITTER: Qiu YS 

PROVIDER: S-EPMC8753405 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature