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4 results

  • Rare Spinocerebellar Ataxia Types in Canada: A Case Series and Review of the Literature

  • Sohaila Alshimemeri, Lamya Alsaghan, Danah Abo Alsamh, Lily Zhou, Sarah Furtado, Scott Kraft, Veronica Bruno, Silke Appel-Cresswell, Antoine Duquette, Bernard Brais, Oksana Suchowersky, Elizabeth Slow, Renato P. Munhoz
  • Journal:
    Canadian Journal of Neurological Sciences , First View
    Published online by Cambridge University Press:
    02 December 2024, pp. 1-10
    • Article
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  • 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. Data were collected from medical centers in Ontario, Alberta and Quebec between January 2000 and February 2021.

    Results:

    We analyzed 25 patients with rare SCA subtypes, with onset ages ranging from birth to 67 years. Infantile and juvenile-onset cases were observed in SCA5, SCA7, SCA14 and SCA34. Most patients presented with gait ataxia, with no significant differences across groups. Additional common features included saccadic abnormalities (22 of 25), dysarthria (19 of 25) and nystagmus (12 of 22, except in SCA7). Less common findings included dystonia (8 of 25), cognitive impairment (7 of 25), tremor (9 of 25) and parkinsonism (3 of 25).

    Conclusion:

    Our study highlights the heterogeneity of rare SCA subtypes in Canada. Ongoing longitudinal analysis will improve the understanding, management and screening of these disorders.

  • 3 - A Brief History of the Work Prior to Rapid Ethnographies

  • Cecilia Vindrola-Padros, University College London
  • Book:
    Rapid Ethnographies
    Published online:
    26 November 2020
    Print publication:
    21 January 2021, pp 30-43

  • Summary

    Chapter 3 presents an overview of work carried out prior to the emergence of rapid ethnographies. It briefly goes over approaches such as rapid rural appraisals (RRA), participatory rural appraisals (PRA), rapid ethnographic assessments (REA), rapid assessment procedures (RAP), rapid assessment response and evaluation (RARE), rapid appraisals, rapid qualitative inquiry (RQI) and rapid evaluation. The purpose of the chapter is to situate rapid ethnographies within a wider field of rapid research, demonstrating the diversity of approaches and their rich history. The chapter also makes comparisons across rapid approaches to highlight their characteristic features and trends that have developed in the way in which we do rapid research.