Publications by authors named "O Suchowersky"
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Background: There is limited information on rare spinocerebellar ataxia (SCA) variants, particularly in the Canadian population. This study aimed to describe the demographic and clinical features of uncommon SCA subtypes in Canada and compare them with international data.
Methods: We conducted a case series and literature review of adult patients with rare SCA subtypes, including SCA5, SCA7, SCA12, SCA14, SCA15, SCA28, SCA34, SCA35 and SCA36.
Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project.
PLoS One
October 2023
Article Synopsis
- Parkinson's disease (PD) is a brain disorder affecting about 7 million people, with genetics playing a big role in some cases, especially in European people.
- Most research has been done on people of European descent, leaving a gap in understanding how PD affects other groups.
- To improve research and create new treatments, scientists have formed a global network of 59 research centers and developed tools like an online map to share information and resources with each other.
Background: Levodopa-carbidopa intestinal gel (LCIG) therapy has been shown to be a safe and effective treatment for advanced Parkinson's disease (PD). Limited data are available regarding long-term benefits and complications in Canada. Objective of the study was to review long-term experience and clinical outcomes in PD patients with LCIG therapy over 11 years in a multidisciplinary University clinic setting.
View Article and Find Full Text PDFArticle Synopsis
- Genetic testing for Parkinson's disease is becoming more available, with advancements in methods and increasing interest in clinical, research, and direct-to-consumer settings.
- Despite the growth in testing, there are currently no effective gene-targeted treatments, although clinical trials are in progress.
- There are significant gaps and controversies in genetic testing practices, including the appropriateness of testing for different individuals, variations based on ethnicity, long-term outcomes of consumer testing, and the resources needed for clinical testing, highlighting the need for clear guidelines.