Publication: Clinical analysis of adult-onset spinocerebellar ataxias in Thailand
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2014
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Mahidol University
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BioMed Central
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BMC Neurology. Vol. 14, (2014), 75
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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 (2014). Clinical analysis of adult-onset spinocerebellar ataxias in Thailand. Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/2736.
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Clinical analysis of adult-onset spinocerebellar ataxias in Thailand
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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.