Authors
Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto, Shiyi Chen, Anil Venkitachalam, Jean-Denis Brisson, Jodi Warman-Chardon, Sohnee Ahmed, Setareh Ashtiani, Heather MacDonald, Noreen Mohsin, Karim Mourabit-Amari, Pierre Provencher, Kym M Boycott, Dimitri J Stavropoulos, Patrick A Dion, Peter N Ray, Oksana Suchowersky, Guy A Rouleau, Grace Yoon
Publication date
2016/12/5
Journal
Neurology: Genetics
Volume
3
Issue
1
Pages
e122
Publisher
Wolters Kluwer
Description
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 country, and 150 patients had a confirmed genetic diagnosis. Mutations were identified in 15 different genes; the most common were SPAST (SPG4, 48 …
Scholar articles
N Chrestian, N Dupré, Z Gan-Or, A Szuto, S Chen… - Neurology: Genetics, 2016