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Abstract Details

Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxias in Canada: A Multi-center Study
Movement Disorders
P1 - Poster Session 1 (9:00 AM-5:00 PM)
234
To describe the demographics and clinical characteristics of Autosomal Dominant (AD) Spinocerebellar Ataxias (SCA) in the Canadian population.

SCAs are a group of AD progressive neurodegenerative disorders, and are seen in a variety of ethnic backgrounds. The only previous Canadian study of SCAs was from Alberta Canada and included 69 patients with the most prevalent SCAs being SCA3 (23.8%), SCA2 (14.3%), and SCA6 (9.5%). 

A retrospective chart review of patients from four large Movement Disorders clinic in Canada (Toronto, Montreal, Calgary, and Edmonton) was performed. Patients with genetically confirmed AD SCA (age of onset > 18), who were seen between Jan 1st 2000 and Jan 1st 2021 were included.  

We had a total of 203 patients. The majority of our patients were of Caucasian (47.8%), Asian (28.6%), and Portuguese (15.3%) ethnic backgrounds. We found that the distribution of the most common SCA differed when comparing province to province. The most prevalent SCA diagnoses in Ontario were SCA3 (49%), followed by SCA1 (14%), then SCA 2 (13%). In contrast, the most prevalent SCA diagnoses in Alberta were SCA2 (26%), SCA3 (20%), and SCA 8 (13%). Similar to Alberta, SCA2 was the most prevalent SCA subtype in Quebec (47%), followed by SCA3 (17%). SCA6 was the third most prevalent SCA subtype in Quebec (14%), which was not seen as commonly in other provinces. Despite being among the most common SCA subtypes found in Ontario, SCA1 was uncommonly seen in both Alberta and Quebec.

The most prevalent AD SCAs in Canada is SCA3 followed by SCA2, SCA1, SCA6, SCA8, in this order. We found that the distribution of the most common SCAs differed when comparing provinces. This finding reflects the heterogenous nature of the Canadian population. SCA3 is the most common SCA subtype in Ontario, partially reflecting the large Portuguese community within Ontario.

Authors/Disclosures
Sohaila A. Alshimemeri, MD (King Saud University)
PRESENTER
Dr. Alshimemeri has nothing to disclose.
No disclosure on file
Lily Zhou, MD (Vancouver General Hospital) Dr. Zhou has received research support from Canadian Institute of Health Research.
Sarah Furtado, MD, PhD, FRCPC (Dept of Clinical Neurosciences) Dr. Furtado has nothing to disclose.
Scott W. Kraft, MD An immediate family member of Dr. Kraft has received personal compensation for serving as an employee of Bayer. An immediate family member of Dr. Kraft has received stock or an ownership interest from Bayer .
Veronica A. Bruno, MD (University of Calgary Foothills) Dr. Bruno has nothing to disclose.
Antoine Duquette, MD (CHUM) Dr. Duquette has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Reata. The institution of Dr. Duquette has received research support from Actelion. The institution of Dr. Duquette has received research support from Ataxia Canada/FARA.
Bernard Brais, MD (Montreal Neurological Institute-Hospital) Dr. Brais has nothing to disclose.
Oksana Suchowersky, MD, FAAN (University of Alberta Hospital) Dr. Suchowersky has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Syneos/Alexion. The institution of Dr. Suchowersky has received research support from Roche. The institution of Dr. Suchowersky has received research support from Wave LifeSciences. The institution of Dr. Suchowersky has received research support from CHDI. Dr. Suchowersky has received publishing royalties from a publication relating to health care. Dr. Suchowersky has received publishing royalties from a publication relating to health care.
Renato P. Munhoz, MD, PhD Dr. Munhoz has nothing to disclose.
Elizabeth Slow, MD, PhD Dr. Slow has nothing to disclose.