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2 results

  • Chapter 47 - Treatable Hereditary Cerebellar Ataxias

  • from Section 4: - Dyscoordinative and Otherwise Inappropriate Motor Behaviors
  • Edited by Erik Ch. Wolters, Universität Zürich, Christian R. Baumann, Universität Zürich
  • Book:
    International Compendium of Movement Disorders
    Published online:
    07 January 2025
    Print publication:
    06 February 2025, pp 592-599

  • Summary

    Hereditary cerebellar ataxia (HA) are a heterogeneous group of disorders characterized by the presence of slowly progressive gait ataxia, dysarthria and other cerebellar signs. Detailed clinical history and neurologic as well as systemic examination are key to accurate diagnosis and hierarchical diagnostic investigations. The initial diagnostic evaluation of patients with HA should include a detailed assessment to rule out acquired treatable etiologies. If such a detailed screening is inconclusive, investigations should be directed towards hereditary causes of cerebellar ataxias. Early diagnosis and treatment can lead to favorable outcomes. Disease-specific therapies have emerged for various cerebellar ataxia syndromes including hereditary ones. Despite these advances, management of the majority of HA remains symptomatic. Moreover, there are no US FDA-approved medications for HAs to date. However, there are a few progressive HA conditions that can improve with disease-specific treatment, particularly if initiated early in the disease course. Here, we discuss various hereditary cerebellar ataxia syndromes that are amenable to disease-specific/targeted treatment.

  • Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec

  • Ikhlass Haj Salem, Marie Beaudin, Monica Stumpf, Mehrdad A. Estiar, Pierre-Olivier Côté, Francis Brunet, Pierre-Luc Gamache, Guy A. Rouleau, Karim Mourabit-Amari, Ziv Gan-Or, Nicolas Dupré
  • Journal:
    Canadian Journal of Neurological Sciences / Volume 48 / Issue 5 / September 2021
    Published online by Cambridge University Press:
    05 January 2021, pp. 655-665
    • Article
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  • Objective:

    To estimate the minimum prevalence of adult hereditary ataxias (HA) and spastic paraplegias (HSP) in Eastern Quebec and to evaluate the proportion of associated mutations in identified genes.

    Methods:

    We conducted a descriptive cross-sectional study of patients who met clinical criteria for the diagnosis of HA (n = 241) and HSP (n = 115) in the East of the Quebec province between January 2007 and July 2019. The primary outcome was the prevalence per 100,000 persons with a 95% confidence interval (CI). The secondary outcome was the frequency of mutations identified by targeted next-generation sequencing (NGS) approach. Minimum carrier frequency for identified variants was calculated based on allele frequency values and the Hardy–Weinberg (HW) equation.

    Results:

    The minimum prevalence of HA in Eastern Quebec was estimated at 6.47/100 000 [95% CI; 6.44–6.51]; divided into 3.73/100 000 for autosomal recessive (AR) ataxias and 2.67/100 000 for autosomal dominant (AD) ataxias. The minimum prevalence of HSP was 4.17/100 000 [95% CI; 4.14–4.2]; with 2.05/100 000 for AD-HSP and 2.12/100 000 for AR-HSP. In total, 52.4% of patients had a confirmed genetic diagnosis. AR cerebellar ataxia type 1 (2.67/100 000) and AD spastic paraplegia SPG4 (1.18/100 000) were the most prevalent disorders identified. Mutations were identified in 23 genes and molecular alterations in 7 trinucleotides repeats expansion; the most common mutations were c.15705–12 A > G in SYNE1 and c.1529C > T (p.A510V) in SPG7.

    Conclusions:

    We described the minimum prevalence of genetically defined adult HA and HSP in Eastern Quebec. This study provides a framework for international comparisons and service planning.