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BMC Neurology
Published in: BMC Neurology 1/2014

Open Access 01-12-2014 | Research article

Clinical analysis of adult-onset spinocerebellar ataxias in Thailand

Authors: Pairoj Boonkongchuen, Sunsanee Pongpakdee, Panitha Jindahra, Chutima Papsing, Powpong Peerapatmongkol, Suppachok Wetchaphanphesat, Supachai Paiboonpol, Charungthai Dejthevaporn, Surat Tanprawate, Angkana Nudsasarn, Chanchai Jariengprasert, Dittapol Muntham, Atiporn Ingsathit, Teeratorn Pulkes

Published in: BMC Neurology | Issue 1/2014

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Abstract

Background

Non-ataxic symptoms of spinocerebellar ataxias (SCAs) vary widely and often overlap with various types of SCAs. Duration and severity of the disease and genetic background may play a role in such phenotypic diversity. We conducted the study in order to study clinical characteristics of common SCAs in Thailand and the factors that may influence their phenotypes.

Methods

131 (49.43%) out of 265 Thai ataxia families with cerebellar degeneration had positive tests for SCA1, SCA2, Machado-Joseph disease (MJD) or SCA6. The study evaluated 83 available families including SCA1 (21 patients), SCA2 (15), MJD (39) and SCA6 (8). Comparisons of frequency of each non-ataxic sign among different SCA subtypes were analysed. Multivariate logistic regression analyses were undertaken to analyze parameters in association with disease severity and size of CAG repeat.

Results

Mean ages at onset were not different among patients with different SCAs (40.31 ± 11.33 years, mean ± SD). Surprisingly, SCA6 patients often had age at onset and phenotypes indistinguishable from SCA1, SCA2 and MJD. Frequencies of ophthalmoparesis, nystagmus, hyperreflexia and areflexia were significantly different among the common SCAs, whilst frequency of slow saccade was not. In contrast to Caucasian patients, parkinsonism, dystonia, dementia, and facial fasciculation were uncommon in Thai patients. Multivariate logistic regression analysis demonstrated that ophthalmoparesis (p < 0.001) and sensory impairment (p = 0.025) were associated with the severity of the disease.

Conclusions

We described clinical characteristics of the 4 most common SCAs in Thailand accounting for almost 90% of familial spinocerebellar ataxias. There were some different observations compared to Caucasian patients including earlier age at onset of SCA6 and the paucity of extrapyramidal features, cognitive impairment and facial fasciculation. Severity of the disease, size of the pathological CAG repeat allele, genetic background and somatic heterogeneity of pathological alleles may influence clinical expressions of these common SCAs.
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Metadata
Title
Clinical analysis of adult-onset spinocerebellar ataxias in Thailand
Authors
Pairoj Boonkongchuen
Sunsanee Pongpakdee
Panitha Jindahra
Chutima Papsing
Powpong Peerapatmongkol
Suppachok Wetchaphanphesat
Supachai Paiboonpol
Charungthai Dejthevaporn
Surat Tanprawate
Angkana Nudsasarn
Chanchai Jariengprasert
Dittapol Muntham
Atiporn Ingsathit
Teeratorn Pulkes
Publication date
01-12-2014
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2014
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/1471-2377-14-75

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