Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

ABSTRACT:

Background

Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases characterized by lower-limb spastic paraplegia with highly genetic and clinical heterogeneity. However, the clinical sign of spastic paraplegia can also be seen in a variety of hereditary neurologic diseases with bilateral corticospinal tract impairment. The purpose of this study is to identify the disease spectrum of spastic paraplegia, and to broaden the coverage of genetic testing and recognize clinical, laboratorial, electrophysiological and radiological characteristics to increase the positive rate of diagnosis.

Methods

Twenty-seven cases were screened out to have definite or suspected pathogenic variants from clinically suspected HSP pedigrees through HSP-associated sequencing and/o

SUBMITTER: Chen J 

PROVIDER: S-EPMC9109329 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature