Publication: Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study
Issued Date
2015
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eng
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Mahidol University
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BioMed Central
Bibliographic Citation
BMC Neurology. Vol. 15, (2015), 166
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Lulin Choubtum, Pirada Witoonpanich, Suchat Hanchaiphiboolkul, Roongroj Bhidayasiri, Onanong Jitkritsadakul, Sunsanee Pongpakdee, Suppachok Wetchaphanphesat, Pairoj Boonkongchuen, Teeratorn Pulkes Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study. BMC Neurology. Vol. 15, (2015), 166. doi:10.1186/s12883-015-0425-y Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/2713
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Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study
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Abstract
Background: About 50 % of Thai patients with adult-onset spinocerebellar ataxia (SCA) was Machado-Joseph
disease (MJD), SCA1, SCA2 and SCA6. The author investigated further on less common SCAs in the patients
without any known mutations.
Methods: DNA samples of 82 index patients who were genetically excluded MJD, SCA1, SCA2, SCA6, SCA7
and dentatorubro-pallidoluysian atrophy (DRPLA) were examined. Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19
genes were comprehensively performed. Normal range of trinucleotide repeat expansion sizes of TATA-box-binding
protein gene (TBP) were also determined in 374 control subjects.
Results: Eight patients carried ≥42 CAG/CAA repeat allele in the TBP consistent with SCA17. The pathological repeat
alleles ranged from 42 to 57 repeats. All patients had significant degree of cognitive dysfunction. Other non-ataxic
phenotypes comprised of parkinsonism, chorea, dystonia and myoclonus. A sporadic patient carried a heterozygous
41-repeat allele developed chronic progressive cerebellar degeneration commenced at the age of 28 years. Whilst, 2 %
of the control subjects (8/374) carried the 41-repeat allele. Five of the carriers were re-examined, and revealed that four
of them had parkinsonism and/or cognitive impairment without cerebellar signs. Analysis of other types of SCAs was
all negative.
Conclusions: This is the first study of SCA8, SCA10, SCA12, SCA17 and SCA19 in Thais. SCA17 appears to be
an important cause of ataxia in Thailand. Although, the pathological cut-off point of the TBP repeat allele remains
unclear, the finding suggests that the 41-repeat may be a pathological allele resulting late-onset or mild phenotype.
Apart from ataxia, cognitive impairment and parkinsonism may be clinical presentations in these carriers.