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Title: Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: A Thai multicentre study
Authors: Lulin Choubtum
Pirada Witoonpanich
Suchat Hanchaiphiboolkul
Roongroj Bhidayasiri
Onanong Jitkritsadakul
Sunsanee Pongpakdee
Suppachok Wetchaphanphesat
Pairoj Boonkongchuen
Teeratorn Pulkes
Mahidol University
Prasat Neurological Institute
King Chulalongkorn Memorial Hospital, Faculty of Medicine Chulalongkorn University
Bhumibol Adulyadej Hospital
Keywords: Medicine
Issue Date: 15-Sep-2015
Citation: BMC Neurology. Vol.15, No.1 (2015)
Abstract: © 2015 Choubtum et al. 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 28years. 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.
ISSN: 14712377
Appears in Collections:Scopus 2011-2015

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