ArticleBMC neurology2015
Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study.
Article in BMC neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Spectrum of Dystonia in Spinocerebellar Ataxia.Tremor and other hyperkinetic movements (New York, N.Y.) · 2026Pooled it
- Spinocerebellar Ataxia Type 12: Spectrums of Movement Disorders and Clinical Features.Neuro-degenerative diseases · 2026Review
- Unravelling the Global Tapestry of Genetic Ataxias: Epidemiology and Genetic Testing Approaches.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- Genetic Movement Disorders Commonly Seen in Asians.Movement disorders clinical practice · 2023Review
- Spinocerebellar Ataxia type 17 presenting with progressive myoclonic epilepsy.eNeurologicalSci · 2023Article
- Very late-onset sporadic spinocerebellar ataxia type 17.Acta neurologica Belgica · 2022Article
- Neurotheranostics as personalized medicines.Advanced drug delivery reviews · 2019Review
- Spinocerebellar ataxias: prospects and challenges for therapy development.Nature reviews. Neurology · 2018Review
- Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.Cerebellum (London, England) · 2018Article
- Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.BMC neurology · 2018Article
- Dystonia and ataxia progression in spinocerebellar ataxias.Parkinsonism & related disorders · 2017Article
- First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China.PloS one · 2017Article
- Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?Tremor and other hyperkinetic movements (New York, N.Y.) · 2016Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAbout 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.
methodsDNA 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.
resultsEight 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.
conclusionsThis 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.
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