Cited by 1,632Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancerGenetics and Neurodevelopmental Disorders

The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Orr, Harry T., Chung, Ming-yi, Banfi, Sandro, Kwiatkowski, Thomas J., Servadio, Antonio, Beaudet, Arthur L., McCall, Alanna E., Duvick, Lisa A., Ranum, Laura P. W., Zoghbi, Huda Y.·1993·Nature Genetics

DOI 10.1038/ng0793-221

Open this paper in CoChat — free account

Abstract

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2-Megabase stretch of DNA from the short arm of chromosome 6 containing the SCA1 locus was isolated in a yeast artificial chromosome contig and subcloned into cosmids. A highly polymorphic CAG repeat was identified in this region and was found to be unstable and expanded in individuals with SCA1. There is a direct correlation between the size of the (CAG)n repeat expansion and the age-of-onset of SCA1, with larger alleles occurring in juvenile cases. We also show that the repeat is present in a 10 kilobase mRNA transcript. SCA1 is therefore the fifth genetic disorder to display a mutational mechanism involving an unstable trinucleotide repeat.

Integrity signals

Registry

Crossref · 10.1038/ng0793-221

Cites

0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080

Flagged first, then by citations

Show all 0 references

Research works printed but not linked: 40

Schut, J.W. Hereditary ataxia: clinical study through six generations. Arch. Neurol. Psychiat. 63, 535–567 (1954). · DOI
Currier, R.D., Glover, G., Jackson, J.F. & Tipton, A.C. Spinocerebellar ataxia: study of a large kindred. Neurology 22, 1040–1043 (1972). · DOI
Nino, H.E., Noreen, H.J. & Dubey, D.P. A family with hereditary ataxia: HLA typing. Neurology 30, 12–20 (1980). · DOI
Zoghbi, H.Y. et al. Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann. Neurol. 23, 580–584 (1988). · DOI
Greenfield, J.G. The spino-cerebellar degenerations (Charles C. Thomas, Springfield, Illinois, 1954).
Haines, J.L., Schut, L.J. & Weitkamp, L.R. Spinocerebellar ataxia in large kindred: age at onset, reproduction, and genetic linkage studies. Neurology 34, 1542–1548 (1984). · DOI
Brook, J.D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68, 799–808 (1992). · DOI
Bruner, H.G. et al. Reverse mutation in myotonic dystrophy. New Engl. J. Med. 328, 476–480 (1993). · DOI
Buxton, J. et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355, 547–548 (1992). · DOI
Fu, Y.-H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256–1259 (1992). · DOI
Harley, H.G. et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355, 545–546 (1992). · DOI
Harley, H.G. et al. Unstable DNA sequence in myotonic dystrophy. Lancet 339, 1125–1128 (1992). · DOI
Kremer, E.J. et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711–1714 (1991). · DOI
Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255, 1253–1255 (1992). · DOI
La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. & Fishbeck, K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77–79 (1991). · DOI
Yakura, H., Wakisaka, A., Fujimoto, S. & Itakura, K. Hereditary ataxia and HLA genotypes. New Engl. J. Med. 291, 154–155 (1974).
Jackson, J.F., Currier, R.D., Terasaki, P.I. & Morton, N.E. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. New Engl. J. Med. 296, 1138–1141 (1977). · DOI
Ranum, L.P.W. et al. Localization of the autosomal dominant, HLA-linked spinocerebellar ataxia (SCA1) locus in two kindreds within an 8cM subregion of chromosome 6p. Am. J. hum. Genet. 49, 31–41 (1991).
Kwiatkowski, T.J. Jr. et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinudeotide repeat at the AM10 locus. Am. J. hum. Genet. (in the press).
La Spada, A.R. et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nature Genet. 2, 301–304 (1992). · DOI
Coutinho, P. & Andrade, C. Autosomal dominant system degeneration in Portuguese families of the Azores. Neurology 28, 703–709 (1978). · DOI
Takiyama, Y. et al. The gene for Machado-Joseph disease maps to human chromosome 14q. Nature Genet. 4, 300–304 (1993). · DOI
Harding, A.E. Genetic aspects of autosomal dominant late onset cerebellar ataxia. J. med. Genet. 18, 436–441 (1981). · DOI
Orozco, G. et al. Dominantly inherited olivopontocerebellar atrophy from eastern Cuba: clinical, neuropathological, and biochemical findings. J. neurol. Sci. 93, 27–50 (1989). · DOI
Gispert, S. et al. Chromosomal assignment of the second (Cuban) locus for autosomal dominant cerebellar atrophy (SCA2) to human chromosome 12q23–24.1. Nature Genet. 4, 295–299 (1993). · DOI
Richards, R.I. et al. Evidence of founder chromosomes in fragile X syndrome. Nature Genet. 1, 257–260 (1992). · DOI
Harley, H.G. et al. Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. Am. J. hum. Genet 49, 68–75 (1991).
Quigley, C.A. et al. Complete deletion of the androgen receptor gene: definion of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J. clin. endocrinol. Metab. 74, 927–933 (1992). · DOI
Trifiro, M. et al. The 56/58 kDa androgen-binding protein in male genital skin fibroblasts with a deleted androgen receptor gene. Molec. cell. endocrinol. 75, 37–47 (1991). · DOI
Wharton, K.A., Johansen, K.M., Xu, T. & Artavanis-Tsakonas, S. Nucleotide sequence from the neurogenic locus notch implies a gene product that shares homology with proteins containing EGF-like repeats. Cell 43, 567–581 (1985). · DOI
Vaessin, H. et al. prospero is expressed in neuronal precursors and encodes a nuclear protein that is involved in the control of axonal outgrowth in Drosophila. Cell 67, 941–953 (1991). · DOI
Bellen, H.J., Kooyer, S., D'Evelyn, D. & Pearlman, J. The Drosophila Couch potato protein is expressed in nuclei of peripheral neuronal precursors and shows homology to RNA-binding proteins. Genes Dev. 6, 2125–2136 (1992). · DOI
Courey, A.J., Holtzman, D.A., Jackson, S.P. & Tjian, R. Synergistic activation by the glutamine-rich domains of human transcription factor Sp1. Cell 59, 827–836 (1989). · DOI
Benson, M. & Pirrotta, V. The Drosophila zeste protein binds cooperatively to sites in many gene regulatory regions: implications for transvection and gene regulation. EMBO J. 7, 3907–3915 (1988). · DOI
Rich, S.S., Wilkie, P., Schut, L., Vance, G. & Orr, H.T. Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6. Am. J. hum. Genet. 41, 524–531 (1987).
Zoghbi, H.Y., Daiger, S.P., McCall, A., O'Brien, W.E. & Beaudet, A.L. Extensive DNA polymorphism at the factor Xllla (F13a) locus and linkage to HLA. Am. J. hum. Genet. 42, 877–883 (1988).
Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning: A Laboratory Manual 2nd edn (Cold Spring Harbor Laboratory Press, New York, 1989).
Weissenbach, J. et al. A second-generation linkage map of the human genome. Nature 359, 794–801 (1992). · DOI
Albertsen, H.M. et al. Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. natn. Acad. Sci. U.S.A. 87, 4256–4260 (1990). · DOI
Brownstein, B.H. et al. Isolation of single-copy human genes from a library of yeast artificial chromosome clones. Science 244, 1348–1351 (1989). · DOI

Sorted by citations

Items 401–500 of 1,000

Loss of Ataxin-1 Potentiates Alzheimer’s Pathogenesis by Elevating Cerebral BACE1 Transcription
Suh, J., Romano, D., Nitschke, L., Herrick, S. P., DiMarzio, B. A., Dzhala, V. I., Bae, J., Oram, M. K., Zheng, Y., Hooli, B. V., et al. (2019) · Cell · doi:10.1016/j.cell.2019.07.043 · Cited by 68
“Since the discovery of expanded CAG repeats in ATXN1 of SCA1 patients (Orr et al., 1993), research efforts on Ataxin-1 have focused on identifying the pathogenic mechanism of cerebellar neurodegeneration.”
BackgroundSelf-citation
Spinocerebellar ataxia type 1 (SCA1): Phenotype-genotype correlation studies in intermediate alleles
Zühlke, C., Dalski, A., Hellenbroich, Y., Bubel, S., Schwinger, E., & Bürk, K. (2002) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200788 · Cited by 68
Decreased Brain Protein Levels of Cytochrome Oxidase Subunits in Alzheimer's Disease and in Hereditary Spinocerebella Ataxia Disorders
Kish, S. J., Mastrogiacomo, F., Guttman, M., Furukawa, Y., Taanman, J., Dozic, S., Pandolfo, M., Lamarche, J. B., DiStefano, L. M., & Chang, L. (1999) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.1999.0720700.x · Cited by 85
“PCR analysis of genomic DNA isolated from autopsied brain confirmed the expanded CAG repeat size in the affected allele (Orr et al., 1993) in all of the patients with SCA1 (range: 54–64).”
Background
Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeat in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy
Tanaka, F., Sobue, G., Doyu, M., Ito, Y., Yamamoto, M., Shimada, N., Yamamoto, K., Riku, S., Hshizume, Y., & Mitsuma, T. (1996) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(95)00249-2 · Cited by 58
Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?
Huang, M., & Verbeek, D. S. (2018) · Neuroscience Letters · doi:10.1016/j.neulet.2018.02.004 · Cited by 76
The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease
Butland, S. L., Sanders, S. S., Schmidt, M. E., Riechers, S., Lin, D. T. S., Martin, D. D. O., Vaid, K., Graham, R. K., Singaraja, R. R., Wanker, E. E., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu137 · Cited by 65
“A polyglutamine-encoding CAG trinucleotide repeat expansion in ATXN1 causes the neurodegenerative disorder Spinocerebellar Ataxia 1 (63).”
Background
Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1.
Goold, R., Hubank, M., Hunt, A., Holton, J., Menon, R., Révész, T., Pandolfo, M., & Matilla-Dueñas, A. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm162 · Cited by 67
“The basic genetic defect in SCA1 consists of the expansion of a translated trinucleotide CAG repeat located within exon 8 of the SCA1 gene (3).”
Effects of chain length on the aggregation of model polyglutamine peptides: Molecular dynamics simulations
Marchut, A. J., & Hall, C. K. (2006) · Proteins: Structure, Function, and Bioinformatics · doi:10.1002/prot.21132 · Cited by 67
“On the basis of their observations that Abeta(1-40) peptides entered cell membranes and caused the cells to lyse, they proposed that Abeta(1-”
BackgroundInfluential
Side-chain interactions determine amyloid formation by model polyglutamine peptides in molecular dynamics simulations.
Marchut, A. J., & Hall, C. (2006) · Biophysical Journal · doi:10.1529/biophysj.105.079269 · Cited by 67
Reduced immunoreactivity to calcium-binding proteins in Purkinje cells precedes onset of ataxia in spinocerebellar ataxia-1 transgenic mice
Vig, P. J., Subramony, S., Burright, E., Fratkin, J., McDaniel, D., Desaiah, D., & Qin, Z. (1998) · Neurology · doi:10.1212/wnl.50.1.106 · Cited by 67
Identification of a self-association region within the SCA1 gene product, ataxin-1.
Burright, E., Davidson, J., Duvick, L., Koshy, B., Zoghbi, H., & Orr, H. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.4.513 · Cited by 67
“The mutational basis of SCA1 was determined to be the expansion of an unstable CAG trinucleotide repeat, encoding glutamine, within the SCA1 gene product (2,3).”
BackgroundSelf-citation
Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: Dentatorubral‐pallidoluysian atrophy, machado‐joseph disease, and spinocerebellar ataxia type 1
Hashida, H., Goto, J., Kurisaki, H., Mizusawa, H., & Kanazawa, I. (1997) · Annals of Neurology · doi:10.1002/ana.410410414 · Cited by 67
Chromosomal distribution of 320 genes from a brain cDNA library
Polymeropoulos, M., Xiao, H., Sikela, J., Adams, M., Venter, J., & Merril, C. (1993) · Nature Genetics · doi:10.1038/ng0893-381 · Cited by 67
Sequence analysis by additive scales: DNA structure for sequences and repeats of all lengths
Baldi, P., & Baisnée, P.-F. (2000) · Bioinform. · doi:10.1093/bioinformatics/16.10.865 · Cited by 66
“Cases are described in the literature (Orr et al., 1993), for instance, where the G of a few isolated CAG triplets within a long CAG repeat region are replaced by a T.”
Background
Protein binding of a DRPLA family through arginine-glutamic acid dipeptide repeats is enhanced by extended polyglutamine.
Yanagisawa, H., Bundo, M., Miyashita, T., Okamura-Oho, Y., Tadokoro, K., Tokunaga, K., & Yamada, M. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1433 · Cited by 66
The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression.
Nechiporuk, T., Huynh, D., Figueroa, K., Sahba, S., Nechiporuk, A., & Pulst, S. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.8.1301 · Cited by 66
Initial results of a genome survey for novel alzheimer's disease risk genes: Association with a locus on the X chromosome
Zubenko, G. S., Stiffler, J. S., Hughes, H. B., Hurtt, M. R., & Kaplan, B. B. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980328)81:2 · Cited by 18
Molecular genetics (HLA) of Behçet's disease.
Mizuki, N., Inoko, H., & Ohno, S. (1997) · Yonsei medical journal · doi:10.3349/ymj.1997.38.6.333 · Cited by 66
Somatic expansion of the (CAG) n repeat in Huntington disease brains
de Rooij, K. E., Gans, P. A. M. D. K., Roos, R. A. C., van Ommen, G. B., & den Dunnen, J. T. (1995) · Human Genetics · doi:10.1007/bf00225192 · Cited by 68
“1991), spinocerebellar ataxia type 1 (Orr et al. 1993) and dentatorubral-pallidoluysian atrophy (Koide et al.”
Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1).
Banfi, S., Servadio, A., Chung, M., Capozzoli, F., Duvick, L., Elde, R., Zoghbi, H., & Orr, H. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.1.33 · Cited by 66
Self-citation
A Preliminary Characterisation of Cognition and Social Cognition in Spinocerebellar Ataxia Types 2, 1, and 7
Sokolovsky, N., Cook, A., Hunt, H., Giunti, P., & Cipolotti, L. (2010) · Behavioural Neurology · doi:10.3233/ben-2010-0270 · Cited by 65
Electrophysiological features in patients and presymptomatic relatives with spinocerebellar ataxia type 2.
Pérez, L. C. V., Cruz, G. S., Ochoa, N. C., Labrada, R. R., Díaz, J. R. R., Mederos, L. A. A., & Mesa, J. M. L. (2007) · Journal of Neurological Sciences · doi:10.1016/j.jns.2007.07.013 · Cited by 65
Diffusion Tensor Imaging of Spinocerebellar Ataxias Types 1 and 2
Mandelli, M. L., Simone, T. D., Minati, L., Bruzzone, M. G., Mariotti, C., Fancellu, R., Savoiardo, M., & Grisoli, M. (2007) · American Journal of Neuroradiology · doi:10.3174/ajnr.a0716 · Cited by 71
“Since the discovery of the gene causing SCA1 in 1993, 27 loci for SCAs and the gene for dentatorubral and pallidoluysian atrophy (DRPLA) have been discovered.(4,5) Different genetic entities can share common pathologic features in SCA1 and SCA2, including severe loss of Purkinje cells and neurons in the pontine and in…”
Background
Spinocerebellar ataxia type 2 in southern Italy: a clinical and molecular study of 30 families
Filla, A., de Michele, G., Santoro, L., Calabrese, O., Castaldo, I., Giuffrida, S., Restivo, D., Serlenga, L., Condorelli, D., Bonuccelli, U., et al. (1999) · Journal of Neurology · doi:10.1007/s004150050385 · Cited by 65
Progressive atrophy of cerebellum and brainstem as a function of age and the size of the expanded CAG repeats in the MJD1 gene in Machado‐Joseph disease
Onodera, O., Idezuka, J., Igarashi, S., Takiyama, Y., Endo, K., Takano, H., Oyake, M., Tanaka, H., Inuzuka, T., Hayashi, T., et al. (1998) · Annals of Neurology · doi:10.1002/ana.410430305 · Cited by 62
CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24.
Nielsen, J. E., Koefoed, P., Abell, K., Hasholt, L., Eiberg, H., Fenger, K., Niebuhr, E., & Sørensen, S. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.11.1811 · Cited by 65
A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.
Barron, L. H., Warner, J. P., Porteous, M. E., Holloway, S., Simpson, S., Davidson, R., & Brock, D. J. H. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.12.1003 · Cited by 57
A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene
Pousi, B., Hautala, T., Hyland, J. C., Schröter, J., Eckes, B., Kivirikko, K. I., & Myllylä, R. (1998) · Human Mutation · doi:10.1002/(sici)1098-1004(1998)11:1 · Cited by 29
Antisense oligonucleotide therapeutics in neurodegenerative diseases: the case of polyglutamine disorders
Silva, A. C., Lobo, D. D., Martins, I. M., Lopes, S., Henriques, C., Duarte, S., Dodart, J., Nobre, R. J., & de Almeida, L. P. (2019) · Brain · doi:10.1093/brain/awz328 · Cited by 73
The role of ataxin 10 in the pathogenesis of spinocerebellar ataxia type 10
Wakamiya, M., Matsuura, T., Liu, Y., Schuster, G., Gao, R., Xu, W., Sarkar, P. S., Lin, X., & Ashizawa, T. (2006) · Neurology · doi:10.1212/01.wnl.0000231140.26253.eb · Cited by 63
TDP1-dependent DNA single-strand break repair and neurodegeneration
El‐Khamisy, S. F., & Caldecott, K. W. (2006) · Mutagenesis · doi:10.1093/mutage/gel024 · Cited by 63
“The first autosomal dominant gene for a hereditary ataxia, spinocerebellar ataxia (SCA1), was identified in 1993 ( 9 ).”
Background
Clinical and genetic analysis of a four-generation family with a distinct autosomal dominant cerebellar ataxia
Schelhaas, H., Ippel, P., Hageman, G., Sinke, R., van der Laan, E. N., & Beemer, F. (2001) · Journal of Neurology · doi:10.1007/s004150170245 · Cited by 64
Spinocerebellar Ataxia Type 2: Genotype and Phenotype in German Kindreds
Schöls, L., Gispert, S., Vorgerd, M., Vieira-Saecker, A., Blanke, P., Auburger, G., Amoiridis, G., Meves, S., Epplen, J. T., Przuntek, H., et al. (1997) · doi:10.1001/archneur.1997.00550210011007 · Cited by 64
RNA biology of disease-associated microsatellite repeat expansions
Rohilla, K. J., & Gagnon, K. T. (2017) · Acta Neuropathologica Communications · doi:10.1186/s40478-017-0468-y · Cited by 70
The autosomal dominant spinocerebellar ataxias: emerging mechanistic themes suggest pervasive Purkinje cell vulnerability
Hekman, K. E., & Gomez, C. M. (2014) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp-2014-308421 · Cited by 62
RNA toxicity in polyglutamine disorders: concepts, models, and progress of research
Fiszer, A., & Krzyżosiak, W. J. (2013) · Journal of Molecular Medicine · doi:10.1007/s00109-013-1016-2 · Cited by 74
“SCA1 is caused by at least 39 CAG repeats present in exon 8 of the ATXN1 gene, which codes for the ataxin-1 protein involved in RNA metabolism and transcriptional regulation [3], and SCA3 (also known as Machado–Joseph disease) is induced by at least 60 CAG repeats that occur in exon 10 of the ATXN3 gene encoding a pro…”
Cognitive Impairment in Spinocerebellar Degeneration
Kawai, Y., Suenaga, M., Watanabe, H., & Sobue, G. (2009) · European Neurology · doi:10.1159/000206850 · Cited by 63
“Recently, genes responsible for these diseases were cloned [ , ,”
Background
Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex
Matilla‐Dueñas, A. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.24.2821 · Cited by 54
The expanding world of ataxins
Zoghbi, H. (1996) · Nature Genetics · doi:10.1038/ng1196-237 · Cited by 63
Self-citation
The Stress of Misfolded Proteins
Brignull, H. R., Morley, J. F., & Morimoto, R. I. (2007) · Springer eBooks · doi:10.1007/978-0-387-39975-1_15 · Cited by 59
“Some of these disorders, including the polyQ diseases, exhibit familial inheritance, allowing the use of genetic studies and positional cloning to identify single gene alterations underlying the disorders.(10-13) Other diseases are sporadic, but rare familial forms have allowed the identification of candidate genes th…”
Background
The Contribution of Somatic Expansion of the CAG Repeat to Symptomatic Development in Huntington’s Disease: A Historical Perspective
Monckton, D. G. (2021) · Journal of Huntington s Disease · doi:10.3233/jhd-200429 · Cited by 72
“(SCA1) (1993) [87], Machado Joseph disease/SCA3”
Pharmacological enhancement of mGlu1 metabotropic glutamate receptors causes a prolonged symptomatic benefit in a mouse model of spinocerebellar ataxia type 1
Notartomaso, S., Zappulla, C., Biagioni, F., Cannella, M., Bucci, D., Mascio, G., Scarselli, P., Fazio, F., Weisz, F., Lionetto, L., et al. (2013) · Molecular Brain · doi:10.1186/1756-6606-6-48 · Cited by 64
“SCA1 patients show loss of coordination of the limbs and trunk, unstable gait, dysarthric speech, and nystagmus, as well as extrapyramidal and dysautonomic symptoms and cognitive dysfunction [1,2].”
Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model
Gehrking, K. M., Andresen, J. M., Duvick, L. A., Lough, J., Zoghbi, H. Y., & Orr, H. T. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr108 · Cited by 62
“Spinocerebellar ataxia type 1 (SCA1) is one of nine inherited polyglutamine diseases that cause neurodegeneration (1,2).”
BackgroundSelf-citation
Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts.
Toulouse, A., Au-Yeung, F., Gaspar, C., Roussel, J., Dion, P., & Rouleau, G. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi299 · Cited by 62
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
Miyatake, S., Koshimizu, E., Fujita, A., Doi, H., Okubo, M., Wada, T., Hamanaka, K., Ueda, N., Kishida, H., Minase, G., et al. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00331-y · Cited by 80
Accumulation of the sigma‐1 receptor is common to neuronal nuclear inclusions in various neurodegenerative diseases
Miki, Y., Mori, F., Kon, T., Tanji, K., Toyoshima, Y., Yoshida, M., Sasaki, H., Kakita, A., Takahashi, H., & Wakabayashi, K. (2013) · Neuropathology · doi:10.1111/neup.12080 · Cited by 64
Purkinje Cell Ataxin-1 Modulates Climbing Fiber Synaptic Input in Developing and Adult Mouse Cerebellum
Ebner, B. A., Ingram, M. A. C., Barnes, J. A., Duvick, L. A., Frisch, J. L., Clark, H. B., Zoghbi, H. Y., Ebner, T. J., & Orr, H. T. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.6311-11.2013 · Cited by 59
“Compromising cerebellar development is another component that contributes to severity of SCA1 in adult mice.”
BackgroundInfluentialSelf-citation
Relative Frequencies of CAG Expansions in Spinocerebellar Ataxia and Dentatorubropallidoluysian Atrophy in 116 Italian Families
Filla, A., Mariotti, C., Caruso, G., Coppola, G., Cocozza, S., Castaldo, I., Calabrese, O., Salvatore, E., de Michele, G., Riggio, M. C., et al. (2000) · European Neurology · doi:10.1159/000008189 · Cited by 61
“A CAG expansion within the coding sequence of the genes has been reported in SCA1 [”
Background
SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.
Yabe, I., Sasaki, H., Matsuura, T., Takada, A., Wakisaka, A., Suzuki, Y., Fukazawa, T., Hamada, T., Oda, T., Ohnishi, A., et al. (1998) · Journal of Neurological Sciences · doi:10.1016/s0022-510x(98)00009-4 · Cited by 61
Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene.
Abe, T., Abe, K., Aoki, M., Itoyama, Y., & Tamai, M. (1997) · A M A Archives of Ophthalmology · doi:10.1001/archopht.1997.01100150233013 · Cited by 61
Is there evidence for anticipation in autosomal-dominant polycystic kidney disease?
Fick, G. M., Johnson, A. M., & Gabow, P. (1994) · Kidney International · doi:10.1038/ki.1994.153 · Cited by 61
The Initial Symptom and Motor Progression in Spinocerebellar Ataxias
Luo, L., Wang, J., Lo, R. Y., Figueroa, K. P., Pulst, S. M., Kuo, P.-H., Perlman, S., Wilmot, G. R., Gomez, C. M., Schmahmann, J. D., et al. (2016) · The Cerebellum · doi:10.1007/s12311-016-0836-3 · Cited by 69
“The length of pathological CAG repeats is predictive of approximately 50-70% of age of onset [3-5], but there is still significant variability in age of onset and motor progression even among SCA patients with the same pathological CAG repeat numbers.”
Background
Four Decades of Neurodegenerative Disease Research: How Far We Have Come!
Young, A. B. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.3767-09.2009 · Cited by 68
“Unraveling the cause of HD helped the discovery of other expanded repeat diseases—many of which also cause neurodegeneration—such as the spinocerebellar ataxias (Orr et al., 1993), Kennedy’s disease, or spinal bulbar muscular atrophy (La Spada et al.”
Background
Prevalence and ethnic differences of autosomal‐dominant cerebellar ataxia in Singapore
Zhao, Y., Tan, E.-S., Law, H., Yoon, C., Wong, M., & Ng, I. (2002) · Clinical Genetics · doi:10.1034/j.1399-0004.2002.620610.x · Cited by 60
Recruitment of Nonexpanded Polyglutamine Proteins to Intranuclear Aggregates in Neuronal Intranuclear Hyaline Inclusion Disease
Takahashi, J., Tanaka, J., Arai, K., Funata, N., Hattori, T., Fukuda, T., Fujigasaki, H., & Uchihara, T. (2001) · Journal of Neuropathology and Experimental Neurology · doi:10.1093/jnen/60.4.369 · Cited by 60
“In a recent study, loss of Purkinje cells in SCA1 transgenic mice was exaggerated by inactivation of the ubiqutin-proteasome pathway, even though the prevalence of intranuclear aggregates decreased (6).”
Background
A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.
Yamamoto, K., Ikeda, S., Hanyu, N., Takeda, S., & Yanagisawa, N. (1998) · Journal of Medical Genetics · doi:10.1136/jmg.35.1.23 · Cited by 60
Spinocerebellar ataxia type 6
Matsumura, R., Futamura, N., Fujimoto, Y., Yanagimoto, S., Horikawa, H., Suzumura, A., & Takayanagi, T. (1997) · Neurology · doi:10.1212/wnl.49.5.1238 · Cited by 60
Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats.
Goldman, A., Ramsay, M., & Jenkins, T. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.1.37 · Cited by 60
Trinucleotide repeat expansions in neurological disease.
Warren, S. T., & Nelson, D. (1993) · Current Opinion in Neurobiology · doi:10.1016/0959-4388(93)90149-s · Cited by 60
PURA, the Gene Encoding Pur-alpha, Member of an Ancient Nucleic Acid-binding Protein Family with Mammalian Neurological Functions
Daniel, D. C., & Johnson, E. (2017) · Gene · doi:10.1016/j.gene.2017.12.004 · Cited by 59
“…myotonic dystrophy (Mulders et al., 2009), Huntington’s disease (La Spada et al., 1994; Kay et al., 2015), spinocerebellar ataxia type 1 (SCA1) (Orr et al., 1993; Andres et al., 2004), and dentatorubral-pallidoluysian atrophy (DRPLA) (Koide et al., 1994; La Spada et al., 1994; Evers et al.,…”
Background
Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis
Galatolo, D., Tessa, A., Filla, A., & Santorelli, F. (2017) · Neurogenetics · doi:10.1007/s10048-017-0532-6 · Cited by 59
Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1
Kraus-Perrotta, C., & Lagalwar, S. (2016) · Cerebellum & Ataxias · doi:10.1186/s40673-016-0058-y · Cited by 65
“and trinucleotide repeat length often increase in subsequent generations, a form of repeat instability that is indicative of genetic anticipation [4].”
Influential
Computational neurobiology is a useful tool in translational neurology: the example of ataxia
Brown, S.-A. N., McCullough, L. D., & Loew, L. M. (2015) · Frontiers in Neuroscience · doi:10.3389/fnins.2015.00001 · Cited by 75
“…mutations in genes that code for ataxin 1, ataxin 2, ataxin 3, and the CACNA1A calcium channel, respectively (Supplementary Material, Table S1) (Gispert et al., 1993; Orr et al., 1993; Kawaguchi et al., 1994; Pulst et al., 1996; Zhuchenko et al., 1997; Tonelli et al., 2006; Bürk et al., 2014).”
Background
The therapeutic potential of siRNA in gene therapy of neurodegenerative disorders.
Koutsilieri, E., Rethwilm, A., & Scheller, C. (2007) · Journal of neural transmission. Supplementum · doi:10.1007/978-3-211-73574-9_7 · Cited by 59
“SCA1 is a dominantly-inherited progressive disease, caused by extended (44–82) glutamine-coding (CAG)-repeats that are located within the ataxin-1 gene ( Orr et al., 1993 ).”
Background
Systematic review of autosomal recessive ataxias and proposal for a classification
Beaudin, M., Klein, C. J., Rouleau, G. A., & Dupré, N. (2017) · Cerebellum & Ataxias · doi:10.1186/s40673-017-0061-y · Cited by 74
An Out-of-frame Overlapping Reading Frame in the Ataxin-1 Coding Sequence Encodes a Novel Ataxin-1 Interacting Protein
Bergeron, D., Lapointe, C., Bissonnette, C., Tremblay, G., Motard, J., & Roucou, X. (2013) · Journal of Biological Chemistry · doi:10.1074/jbc.m113.472654 · Cited by 61
Damage to the reticulotegmental nucleus of the pons in spinocerebellar ataxia type 1, 2, and 3
Rüb, U., Bürk, K., Schöls, L., Brunt, E., de Vos, R., Díaz, G. O., Gierga, K., Ghebremedhin, E., Schultz, C., Turco, D. D., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000140498.24112.8c · Cited by 58
Cytochrome c oxidase subunit Vb interacts with human androgen receptor: a potential mechanism for neurotoxicity in spinobulbar muscular atrophy.
Beauchemin, A., Gottlieb, B., Beitel, L. K., Elhaji, Y., Pinsky, L., & Trifiro, M. (2001) · Brain Research Bulletin · doi:10.1016/s0361-9230(01)00583-4 · Cited by 58
Age of onset evidence for anticipation in familial non‐Hodgkin's lymphoma
Wiernik, P., Wang, S. Q., Hu, X.-P., Marino, P., & Paietta, E. (2000) · British Journal of Haematology · doi:10.1046/j.1365-2141.2000.01815.x · Cited by 58
Dentatorubral-pallidoluysian atrophy protein interacts through a proline-rich region near polyglutamine with the SH3 domain of an insulin receptor tyrosine kinase substrate.
Okamura-Oho, Y., Miyashita, T., Ohmi, K., & Yamada, M. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.6.947 · Cited by 58
A unique origin and multistep process for the generation of expanded DRPLA triplet repeats.
Yanagisawa, H., Fujii, K., Nagafuchi, S., Nakahori, Y., Nakagome, Y., Akane, A., Nakamura, M., Sano, A., Komure, O., Kondo, I., et al. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.3.373 · Cited by 58
Dentatorubral-pallidoluysian atrophy (DRPLA): clinical, genetic, and neuroradiologic studies in a family
Uyama, E., Kondo, I., Uchino, M., Fukushima, T., Murayama, N., Kuwano, A., Inokuchi, N., Ohtani, Y., & Ando, M. (1995) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(95)00019-x · Cited by 60
Mouse Models of Polyglutamine Diseases: Review and Data Table. Part I
Figiel, M., Szlachcic, W. J., Switonski, P. M., Gabka, A., & Krzyżosiak, W. J. (2012) · Molecular Neurobiology · doi:10.1007/s12035-012-8315-4 · Cited by 60
“spinal and bulbar muscular atrophy, X-linked 1 (SMAX1/ SBMA) [2, 3]; six spinocerebellar ataxias (SCA) type 1 [4], type 2 [5], Machado–Joseph disease (MJD/SCA3) [6], type 6 [7], type 7 [8], and type 17 [9, 10]; and dentatorubralpallidoluysian atrophy (DRPLA) [11, 12].”
Background
Neurotoxic effects of androgens in spinal and bulbar muscular atrophy
Parodi, S., & Pennuto, M. (2011) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2011.06.003 · Cited by 59
The hereditary spinocerebellar ataxias in Japan
Sasaki, H., Yabe, I., & Tashiro, K. (2003) · Cytogenetic and Genome Research · doi:10.1159/000072855 · Cited by 57
“Subsequently, this HLA-linked SCA was assigned to 6p23 as SCA1, and it is now known to be caused by abnormal CAG repeat expansion in the coding region of the ataxin-1 gene (Orr et al., 1993).”
Background
Autosomal dominant cerebellar ataxia deafness and narcolepsy.
Melberg, A., Hetta, J., Dahl, N., Nennesmo, I., Bengtsson, M., Wibom, R., Grant, C., Gustavson, K., & Lundberg, P. (1995) · Journal of Neurological Sciences · doi:10.1016/0022-510x(95)00228-0 · Cited by 57
Dentatorubral-pallidoluysian atrophy (DRPLA): Close correlation of CAG repeat expansions with the wide spectrum of clinical presentations and prominent anticipation
Ikeuchi, T., Onodera, O., Oyake, M., Koide, R., Tanaka, H., & Tsuji, S. (1995) · Seminars in Cell Biology · doi:10.1016/1043-4682(95)90013-6 · Cited by 55
Sigma-1 (σ1) Receptor in Memory and Neurodegenerative Diseases
Maurice, T., & Goguadze, N. (2017) · Handbook of experimental pharmacology · doi:10.1007/164_2017_15 · Cited by 65
Aberrant Cerebellar Circuitry in the Spinocerebellar Ataxias
Robinson, K. J., Watchon, M., & Laird, A. S. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00707 · Cited by 59
Gene Silencing in Higher Plants and Related Phenomena in Other Eukaryotes
Meyer, P. (2011) · Current Topics in Microbiology and Immunology · doi:10.1007/978-3-642-79145-1 · Cited by 56
14-3-3 Binding to Ataxin-1(ATXN1) Regulates Its Dephosphorylation at Ser-776 and Transport to the Nucleus
Lai, S., O’Callaghan, B. L., Zoghbi, H. Y., & Orr, H. T. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.238527 · Cited by 54
Self-citation
Intrafamilial variability of Parkinson phenotype in SCAs: novel cases due to SCA2 and SCA3 expansions.
Socal, M., Emmel, V. E., Rieder, C., Hilbig, A., Saraiva-Pereira, M., & Jardim, L. B. (2009) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2008.09.005 · Cited by 56
“ATXN1, ATXN2, ATXN3, CACNA1A, and ATXN7 screenings were performed by PCR amplification using fluorescent primers [11,18–20].”
Method
Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis
Bang, O., Lee, P., Kim, S. Y., Kim, H. J., & Huh, K. (2004) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2003.029819 · Cited by 56
Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis.
Dorschner, M., Barden, D., & Stephens, K. (2002) · Journal of Molecular Diagnostics · doi:10.1016/s1525-1578(10)60689-7 · Cited by 56
Identification and localization of ataxin-7 in brain and retina of a patient with cerebellar ataxia type II using anti-peptide antibody.
Mauger, C., Del-Favero, J., Ceuterick, C., Lübke, U., van Broeckhoven, C., & Martin, J.-J. (1999) · Brain Research. Molecular Brain Research · doi:10.1016/s0169-328x(99)00256-9 · Cited by 56
The androgen receptor CAG repeat polymorphism and its relationship to prostate cancer.
Kantoff, P., Giovannucci, E., & Brown, M. (1998) · Biochimica et Biophysica Acta · doi:10.1016/s0304-419x(98)00023-7 · Cited by 56
Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1.
Sahba, S., Nechiporuk, A., Figueroa, K., Nechiporuk, T., & Pulst, S. (1998) · Genomics · doi:10.1006/geno.1997.5131 · Cited by 56
X‐Linked recessive bulbospinal neuronopathy: Clinical phenotypes and cag repeat size in androgen receptor gene
Shimada, N., Sobue, G., Doyu, M., Yamamoto, K., Yasuda, T., Mukai, E., Kachi, T., & Mitsuma, T. (1995) · Muscle & Nerve · doi:10.1002/mus.880181206 · Cited by 52
Mechanisms of DNA expansion
McMurray, C. T. (1995) · Chromosoma · doi:10.1007/bf00352220 · Cited by 126
“type I (Chung et al. 1993; Orr et al. 1993), hereditary dentorubral-pallidoluysian atrophy (DRPLA) (Koide et”
Background
Analysis of spinocerebellar ataxia type 1 (SCA1)-related CAG trinucleotide expansion in Japan
Kameya, T., Abe, K., Aoki, M., Sahara, M., Tobita, M., Konno, H., & Itoyama, Y. (1995) · Neurology · doi:10.1212/wnl.45.8.1587 · Cited by 54
Sigma-1 receptor is involved in degradation of intranuclear inclusions in a cellular model of Huntington's disease
Miki, Y., Tanji, K., Mori, F., & Wakabayashi, K. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.11.005 · Cited by 54
“HD is now known to be one of the nine polyglutamine diseases caused by the expansion of trinucleotide repeats encoding polyglutamine in their causative genes (Orr et al., 1993; Kawaguchi et al., 1994; Koide et al., 1994; Nagafuchi et al., 1994; Pulst et al., 1996; Martindale et al., 1998).”
Oligonucleotide-based strategies to combat polyglutamine diseases
Fiszer, A., & Krzyżosiak, W. J. (2014) · Nucleic Acids Research · doi:10.1093/nar/gku385 · Cited by 70
“SCA1: spinocerebellar ataxia type 1 (292) ATXN1 8–44/45–82 Ubiquitous Ataxin-1/∼85 kDa/transcription regulation, alternative splicing Purkinje cells, dentate nucleus, brainstem,”
Background
Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis
Mariotti, C., Brusco, A., Bella, D. D., Cagnoli, C., Seri, M., Gellera, C., Donato, S. D., & Taroni, F. (2008) · Cerebellum · doi:10.1007/s12311-008-0053-9 · Cited by 55
“Since the identification of the first gene responsible for spinocerebellar ataxia type 1 (SCA1) in 1993 (4), an increasing number of genes and chromosomal loci have been characterized, demonstrating a large genetic heterogeneity in these hereditary disorders (2,3,5).”
Background
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families
Basri, R., Yabe, I., Soma, H., & Sasaki, H. (2007) · Journal of Human Genetics · doi:10.1007/s10038-007-0182-x · Cited by 48
“To date, 29 different genetic loci have been reported to be responsible for ADCA (http://www.gene.ucl.ac.uk/cgi-bin/nomenclature): Spinocerebellar ataxia type 1 (SCA1) on chromosome 6p22-p23 (Orr et al. 1993); SCA2 on 12q23-q24.”
BackgroundResultInfluential
Identification and expression of a mouse ortholog of A2BP1
Kiehl, T., Shibata, H., Vo, T., Huynh, D., & Pulst, S. (2001) · Mammalian Genome · doi:10.1007/s00335-001-2056-4 · Cited by 55
“…disease (The Huntington’s Disease Collaborative Research Group 1993), spinobulbar muscular atrophy (SBMA; La Spada et al. 1991) and the spinocerebellar ataxias (SCA1: Orr et al. 1993; SCA2; Pulst et al. 1996; SCA3: Kawaguchi et al. 1994; SCA6: Zhuchenko et al. 1997; SCA7: David et al. 1997).”
Background
The androgen receptor: Physiology and pathophysiology
Quigley, C. A. (1998) · Springer eBooks · doi:10.1007/978-3-642-72185-4_2 · Cited by 50
Genetic Cerebellar Ataxias
Storey, E. (2014) · Seminars in neurology · doi:10.1055/s-0034-1386766 · Cited by 54
Mutations in American families with spinocerebellar ataxia (SCA) type 3
Higgins, J., Nee, L., Vasconcelos, O., Ide, S. E., Lavedan, C., Goldfarb, L., & Polymeropoulos, M. (1996) · Neurology · doi:10.1212/wnl.46.1.208 · Cited by 54
Neuropsychological test performance in patients with dominantly inherited spinocerebellar ataxia
Kish, S., El-Awar, M., Stuss, D., Nobrega, J., Currier, R., Aita, J., Schut, L., Zoghbi, H., & Freedman, M. (1994) · Neurology · doi:10.1212/wnl.44.9.1738 · Cited by 54
Self-citation
Prevalence of Inherited Ataxias in the Province of Padua, Italy
Zortea, M., Armani, M., Pastorello, E., Núñez, G. G., Lombardi, S., Tonello, S., Rigoni, M., Zuliani, L., Mostacciuolo, M., Gellera, C., et al. (2004) · Neuroepidemiology · doi:10.1159/000080092 · Cited by 53

Authors: Orr, H. T., Chung, M.-Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., & Zoghbi, H. Y.
Affiliations: University of Minnesota (US)
Baylor College of Medicine (US)
Howard Hughes Medical Institute (US)
ORCID: Orr, Harry T.
Chung, Ming-yi
Banfi, Sandro
Beaudet, Arthur L.
Duvick, Lisa A.
Ranum, Laura P. W.
Zoghbi, Huda Y.
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1993-07
Volume: 4
Issue: 3
Pages: 221-226
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng0793-221
OpenAlex: W2255469197
Cited by: 1,632
References: 0
Citations by year: 2026: 20 · 2025: 24 · 2024: 30 · 2023: 37 · 2022: 45 · 2021: 35 · 2020: 41 · 2019: 27 · 2018: 42 · 2017: 35 · 2016: 23 · 2015: 19 · 2014: 41 · 2013: 50 · 2012: 34
FWCI: 40.91
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords: spinocerebellar ataxia type 1, CAG repeat expansion, trinucleotide repeat instability, age of onset, chromosome 6, repeat polymorphism, mRNA transcripts, neurodegeneration
MeSH terms: Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 6, Cloning, Molecular, DNA, Female, Humans, Male, Molecular Sequence Data, Oligodeoxyribonucleotides, Pedigree, Repetitive Sequences, Nucleic Acid, Spinocerebellar Degenerations, Transcription, Genetic, Polymerase Chain Reaction

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Metadata

Record

About these checks