Objective: The etiologies and frequency of cerebellar ataxias vary among countries. Our primary aim was to assess the frequency of each diagnostic group of cerebellar ataxia patients in a Korean population.

Background: The prevalence and frequency of cerebellar ataxia subtypes vary among countries. Although estimation of subtype frequency is necessary for planning a diagnostic strategy in a specific population, studies regarding epidemiology in all categories of cerebellar ataxias is surprisingly rare in Korea. Our primary aim was to assess the frequency of each diagnostic group (familial and sporadic) in a movement disorders out-patient clinic at a tertiary referral center.

Methods: We reviewed medical records of patients those who were in the process of follow-up during the period from November 1994 to February 2016. We divided patients with cerebellar ataxias into familial and non-familial groups and analyzed the frequency of each etiology. Finally, we categorized patients into genetic, sporadic, secondary and suspected genetic, but undetermined ataxia.

Results: A total of 820 patients were included in the study, among whom 136(16.6%) familial patients and 684(83.4%) non-familial cases were identified. Genetic diagnosis confirmed 98/136(72%) familial and 72/684(11%) non-familial patients. The overall etiologies of progressive ataxias consisted of 170(20.7%) genetic, 516(62.9%) sporadic, 43(5.2%) secondary and 91(11.1%) undetermined ataxia. The most common cause of ataxia was multiple system atrophy(57.3%). In the genetic group, the most common etiology was spinocerebellar ataxia(152/170, 89.4%) and the most common subtype was spinocerebellar ataxia 3. 38 of 136 familial and 53 of 684 sporadic cases(91/820, 11.1%) were undetermined ataxia.

Conclusions: This is the largest epidemiological study to analyze the frequencies of various cerebellar ataxias in a Korean population based on a large database of a tertiary hospital movement disorders clinic in South Korea. These data would be helpful for clinicians in constructing diagnostic strategies and counseling for patients with cerebellar ataxias.

References: 1. Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, et al. Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work. J Neurol 2017;264:1118-1126. 2. Hadjivassiliou M, Martindale J, Shanmugarajah P, Grünewald RA, Sarrigiannis PG, Beauchamp N, et al. Causes of progressive cerebellar ataxia: prospective evaluation of 1500 patients. J Neurol Neurosurg Psychiatry 2017;88:301-309.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-etiologies-of-chronic-progressive-cerebellar-ataxia-in-a-korean-population/