ArticlePloS one2015
The Pathogenic Role of Low Range Repeats in SCA17.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 17 citations in OpenAlex.
- A DLB patient with complicated CAA interruptions and intermediate alleles of 43 CAG/CAA repeats in TBP.Acta neurologica Belgica · 2024Article
- Genetic Movement Disorders Commonly Seen in Asians.Movement disorders clinical practice · 2023Review
- Genetic Dominant Variants inInternational journal of molecular sciences · 2021Article
- An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.Acta neuropathologica communications · 2021Review
- Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2021Article
- Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Ophthalmic Manifestations and Genetics of the Polyglutamine Autosomal Dominant Spinocerebellar Ataxias: A Review.Frontiers in neuroscience · 2020Review
- Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.Frontiers in cellular neuroscience · 2018Article
- Huntington's Disease, Huntington's Disease Look-Alikes, and Benign Hereditary Chorea: What's New?Movement disorders clinical practiceReview
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Authors and funding
11 authors at 7 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
introductionSCA17 is an autosomal dominant cerebellar ataxia with expansion of the CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP) gene. SCA17 can have various clinical presentations including parkinsonism, ataxia, chorea and dystonia. SCA17 is diagnosed by detecting the expanded CAG repeats in the TBP gene; however, in the literature, pathologic repeat numbers as low as 41 overlap with normal repeat numbers.
methodsThe subjects in this study included patients with involuntary movement disorders such as cerebellar ataxia, parkinsonism, chorea and dystonia who visited Seoul National University Hospital between Jan. 2006 and Apr. 2014 and were screened for SCA17. Those who were diagnosed with other genetic diseases or nondegenerative diseases were excluded. DNA from healthy subjects who did not have a family history of parkinsonism, ataxia, psychiatric symptoms, chorea or dystonia served as the control. In total, 5242 chromosomes from 2099 patients and 522 normal controls were analyzed.
resultsThe total number of patients included in the analysis was 2099 (parkinsonism, 1706; ataxia, 345; chorea, 37; and dystonia, 11). In the normal control, up to 44 repeats were found. In the 44 repeat group, there were 7 (0.3%) patients and 1 (0.2%) normal control. In 43 repeat group, there were 8 (0.4%) patients and 2 (0.4%) normal controls. In the 42 repeat group, there were 16 (0.8%) patients and 3 (0.6%) normal controls. In 41 repeat group, there were 48 (2.3%) patients and 8 (1.5%) normal controls. Considering the overlaps and non-significant differences in allelic frequencies between the patients and the normal controls with low-expansions, we could not determine a definitive cutoff value for the pathologic CAG repeat number of SCA17.
conclusionBecause the statistical analysis between the normal controls and patients with low range expansions failed to show any differences so far, we must consider that clinical cases with low range expansions could be idiopathic movement disorders showing coincidental CAG/CAA expansions. Thus, we need to reconsider the pathologic role of low range expansions (41-42). Long term follow up and comprehensive investigations using autopsy and imaging studies in patients and controls with low range expansions are necessary to determine the cutoff value for the pathologic CAG repeat number of SCA17.
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