ArticleAmerican journal of human genetics2000
High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 80 citations in OpenAlex.
- PSP-Phenotype in SCA8: Case Report and Systemic Review.Cerebellum (London, England) · 2019Pooled it
- Germline EGFR mutations in lung cancer (Review).Oncology letters · 2023Review
- CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.EMBO molecular medicine · 2021Article
- Conventional MRI findings in hereditary degenerative ataxias: a pictorial review.Neuroradiology · 2021Review
- The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington's Disease: A Historical Perspective.Journal of Huntington's disease · 2021Review
- Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.Journal of neurology · 2019Article
- Epilepsy in spinocerebellar ataxia type 8: a case report.Journal of medical case reports · 2019Article
- Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China.Neuroscience bulletin · 2018Article
- A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37.Journal of human genetics · 2018Article
- Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature.Brain sciences · 2017Review
- A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.American journal of human genetics · 2017Article
- Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.Annual review of genomics and human genetics · 2016Review
- Role of dynamic and mitochondrial mutations in neurodegenerative diseases with ataxia: lower repeats and LNAs at multiple loci as alternative pathogenesis.Journal of molecular neuroscience : MN · 2014Article
- Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.European journal of human genetics : EJHG · 2010Article
- Understanding what determines the frequency and pattern of human germline mutations.Nature reviews. Genetics · 2009Review
- Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.Cerebellum (London, England) · 2008Article
- Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia.American journal of human genetics · 2004Article
- Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.Journal of neurology, neurosurgery, and psychiatry · 2004Review
- SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.American journal of human genetics · 2003Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA). The mutant proteins have shown an expanded polyglutamine tract in SCA1, SCA2, MJD/SCA3, SCA6, SCA7, and DRPLA; a glycine-to-arginine substitution was found in SCA6 as well. Recently, an untranslated (CTG)n expansion on chromosome 13q was described as being the cause of SCA8. We have now (1) assessed the repeat size in a group of patients with ataxia and a large number of controls, (2) examined the intergenerational transmission of the repeat, and (3) estimated the instability of repeat size in the sperm of one patient and two healthy controls. Normal SCA8 chromosomes showed an apparently trimodal distribution, with classes of small (15-21 CTGs), intermediate (22-37 CTGs), and large (40-91 CTGs) alleles; large alleles accounted for only0.7% of all normal-size alleles. No expanded alleles (>/=100 CTGs) were found in controls. Expansion of the CTG tract was found in five families with ataxia; expanded alleles (all paternally transmitted) were characterized mostly by repeat-size contraction. There was a high germinal instability of both expanded and normal alleles: in one patient, the expanded allele (152 CTGs) had mostly contraction in size (often into the normal range); in the sperm of two normal controls, contractions were also more frequent, but occasional expansions into the upper limit of the normal size range were also seen. In conclusion, our results show (1) no overlapping between control (15-91) and pathogenic (100-152) alleles and (2) a high instability in spermatogenesis (both for expanded and normal alleles), suggesting a high mutational rate at the SCA8 locus.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.