Abstract
BackgroundSpinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genetic subtype.MethodsThirty four patients with autosomal dominant ataxia were recruited. For every patient the following was done: recording of clinical details and genotyping for SCA 1, 2, 3, 6, 7, 8, 12, and 17.ResultsSixty one per cent of the subjects were identified as SCA1. One subject had SCA2, 12 remain unidentified. Mean age at onset was 34.8 ± 10years for SCA1 and 32.7 ± 9.8 for non SCA1. 76% of SCA1 patients and 50% of non SCA1 were using walking aids. Quantification of symptoms and signs were similar in the SCA1 and non SCA1 groups. Clinical depression was evidenced in 68.4% of SCA1 and 75% non SCA-1 patients. Mean CAG repeat length in SCA1 patients was 52.0 ± 3.8, with greater anticipation seen with paternal inheritance.ConclusionSCA1 was the predominant subtype and showed similar phenotype to previous reports. However, disease severity was higher and depression more prevalent in this population than previously described.
Highlights
Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders
We report the clinical and genetic results in 34 patients identified with autosomal dominant ataxia in Sri Lanka
A total of 34 patients were recruited from 27 families with autosomal dominant hereditary ataxia
Summary
Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patients with autosomal dominant ataxia in Sri Lanka and to describe the clinical features of each genetic subtype. Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders [1]. Wide geographical variation in prevalence of autosomal dominant SCA is seen partly due to founder mutations [3]. SCA 1, 2, 3, 6, and 7 caused by trinucleotide repeats are the most prevalent SCA subtypes worldwide. SCA7 is reported as a common SCA type of South African families of Black ethnic origin [4]. In the South Asian region, most studies originate from India, and show a variation in SCA prevalence with increased SCA 1 in south India and SCA 2 in east India [5,6,7,8,9] (Table 1)
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