Clinical and genetic study of hereditary spastic paraplegia in Canada.

ABSTRACT:

Objective

To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors determine functional outcomes for patients with HSP.

Methods

We conducted a multicenter observational study of patients who met clinical criteria for the diagnosis of HSP in the provinces of Alberta, Ontario, and Quebec from 2012 to 2015. Characteristics of the participants were analyzed using descriptive statistics. The main outcome measure for a subset of the cohort (n = 48) was the Spastic Paraplegia Rating Scale. We also used the SPATAX-EUROSPA disability stage (disability score) to assess disability (n = 65).

Results

A total of 526 patients were identified with HSP across the coun

SUBMITTER: Chrestian N 

PROVIDER: S-EPMC5141523 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature