ArticleAmerican journal of human genetics2000
An unstable trinucleotide-repeat region on chromosome 13 implicated in spinocerebellar ataxia: a common expansion locus.
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.
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Who cites it
19 citing papers in PubMed, 86 citations in OpenAlex.
- Short tandem repeat expansions in patients with neurodegenerative dementia.EBioMedicine · 2026Article
- 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
- The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins.Internal medicine (Tokyo, Japan) · 2020Article
- Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.Journal of neurology · 2019Article
- Are common fragile sites merely structural domains or highly organized "functional" units susceptible to oncogenic stress?Cellular and molecular life sciences : CMLS · 2014Review
- Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients.Cerebellum (London, England) · 2013Article
- Possible role of the transglutaminases in the pathogenesis of Alzheimer's disease and other neurodegenerative diseases.International journal of Alzheimer's disease · 2011Article
- Physio-pathological roles of transglutaminase-catalyzed reactions.World journal of biological chemistry · 2010Article
- Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes.Cerebellum (London, England) · 2008Article
- Social neuroscience of child and adolescent depression.Brain and cognition · 2007Review
- Targeted deletion of a single Sca8 ataxia locus allele in mice causes abnormal gait, progressive loss of motor coordination, and Purkinje cell dendritic deficits.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2006Article
- 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
- Anticipation and CAG*CTG repeat expansion in schizophrenia and bipolar affective disorder.Current psychiatry reports · 2003Review
- SCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.American journal of human genetics · 2003Article
- A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected].American journal of human genetics · 2003Article
- The spinocerebellar ataxias: order emerges from chaos.Current neurology and neuroscience reports · 2002Review
- Schizophrenia and genetics: new insights.Current psychiatry reports · 2002Review
- Incorporation of molecular data and redefinition of phenotype: new approaches to genetic epidemiology of bipolar manic depressive illness and schizophrenia.Dialogues in clinical neuroscience · 2001Article
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Authors and funding
16 authors at 9 institutions in 5 countries.
Funding
Abstract
Larger CAG/CTG trinucleotide-repeat tracts in individuals affected with schizophrenia (SCZ) and bipolar affective disorder (BPAD) in comparison with control individuals have previously been reported, implying a possible etiological role for trinucleotide repeats in these diseases. Two unstable CAG/CTG repeats, SEF2-1B and ERDA1, have recently been cloned, and studies indicate that the majority of individuals with large repeats as detected by repeat-expansion detection (RED) have large repeat alleles at these loci. These repeats do not show association of large alleles with either BPAD or SCZ. Using RED, we have identified a BPAD individual with a very large CAG/CTG repeat that is not due to expansion at SEF2-1B or ERDA1. From this individual's DNA, we have cloned a highly polymorphic trinucleotide repeat consisting of (CTA)n (CTG)n, which is very long ( approximately 1,800 bp) in this patient. The repeat region localizes to chromosome 13q21, within 1.2 cM of fragile site FRA13C. Repeat alleles in our sample were unstable in 13 (5.6%) of 231 meioses. Large alleles (>100 repeats) were observed in 14 (1. 25%) of 1,120 patients with psychosis, borderline personality disorder, or juvenile-onset depression and in 5 (.7%) of 710 healthy controls. Very large alleles were also detected for Centre d'Etude Polymorphisme Humaine (CEPH) reference family 1334. This triplet expansion has recently been reported to be the cause of spinocerebellar ataxia type 8 (SCA8); however, none of our large alleles above the disease threshold occurred in individuals either affected by SCA or with known family history of SCA. The high frequency of large alleles at this locus is inconsistent with the much rarer occurrence of SCA8. Thus, it seems unlikely that expansion alone causes SCA8; other genetic mechanisms may be necessary to explain SCA8 etiology.
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