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Did you mean pinocerebellar ataxia cag repeat expansion (1,503 results)?
Spinocerebellar ataxia: an update.
Sullivan R, Yau WY, O'Connor E, Houlden H. Sullivan R, et al. J Neurol. 2019 Feb;266(2):533-544. doi: 10.1007/s00415-018-9076-4. Epub 2018 Oct 3. J Neurol. 2019. PMID: 30284037 Free PMC article. Review.
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. ...Recent studies have also demonstrated the importance of DNA repair pathways in modifying SCA with CAG expansions. In add …
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritanc …
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
Tan D, Wei C, Chen Z, Huang Y, Deng J, Li J, Liu Y, Bao X, Xu J, Hu Z, Wang S, Fan Y, Jiang Y, Wu Y, Wu Y, Wang S, Liu P, Zhang Y, Yang Z, Jiang Y, Zhang H, Hong D, Zhong N, Jiang H, Xiong H. Tan D, et al. Mov Disord. 2023 Jul;38(7):1282-1293. doi: 10.1002/mds.29412. Epub 2023 May 6. Mov Disord. 2023. PMID: 37148549
BACKGROUND: More than 50 loci are associated with spinocerebellar ataxia (SCA), and the most frequent subtypes share nucleotide repeats expansion, especially CAG expansion. ...RESULTS: We identified THAP11 as the novel causative SCA gene …
BACKGROUND: More than 50 loci are associated with spinocerebellar ataxia (SCA), and the most frequent subtypes share nucleotid …
CAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A. Kacher R, et al. Am J Hum Genet. 2024 May 2;111(5):913-926. doi: 10.1016/j.ajhg.2024.03.015. Epub 2024 Apr 15. Am J Hum Genet. 2024. PMID: 38626762 Free PMC article.
Expanded CAG repeats in coding regions of different genes are the most common cause of dominantly inherited spinocerebellar ataxias (SCAs). ...We showed that somatic mosaicism in the blood increases over time. Expansion levels are significantly …
Expanded CAG repeats in coding regions of different genes are the most common cause of dominantly inherited spinocerebellar …
CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3.
Leotti VB, de Vries JJ, Oliveira CM, de Mattos EP, Te Meerman GJ, Brunt ER, Kampinga HH, Jardim LB, Verbeek DS. Leotti VB, et al. Ann Neurol. 2021 Jan;89(1):66-73. doi: 10.1002/ana.25919. Epub 2020 Oct 7. Ann Neurol. 2021. PMID: 32978817
OBJECTIVE: In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the expanded cytosine adenine guanine (CAG) repeat in ATXN3 is the causal mutation, and its length is the main factor in determining the age at onset (AO) of clinical sympto …
OBJECTIVE: In spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the expanded cytosine adenine guanine (CAG …
Antagonistic roles of canonical and Alternative-RPA in disease-associated tandem CAG repeat instability.
Gall-Duncan T, Luo J, Jurkovic CM, Fischer LA, Fujita K, Deshmukh AL, Harding RJ, Tran S, Mehkary M, Li V, Leib DE, Chen R, Tanaka H, Mason AG, Lévesque D, Khan M, Razzaghi M, Prasolava T, Lanni S, Sato N, Caron MC, Panigrahi GB, Wang P, Lau R, Castel AL, Masson JY, Tippett L, Turner C, Spies M, La Spada AR, Campos EI, Curtis MA, Boisvert FM, Faull RLM, Davidson BL, Nakamori M, Okazawa H, Wold MS, Pearson CE. Gall-Duncan T, et al. Cell. 2023 Oct 26;186(22):4898-4919.e25. doi: 10.1016/j.cell.2023.09.008. Epub 2023 Oct 11. Cell. 2023. PMID: 37827155 Free PMC article.
Expansions of repeat DNA tracts cause >70 diseases, and ongoing expansions in brains exacerbate disease. During expansion mutations, single-stranded DNAs (ssDNAs) form slipped-DNAs. We find the ssDNA-binding complexes canonical replication protein A …
Expansions of repeat DNA tracts cause >70 diseases, and ongoing expansions in brains exacerbate disease. During e …
Spinocerebellar ataxia type 2 followed by amyotrophic lateral sclerosis due to a pure CAG repeat expansion in ATXN2: a case report and literature review.
Ono S, Nakamura M, Ikegami T, Kajiyama Y, Kume K, Takahashi Y, Takahashi M, Mochizuki H, Mizusawa H, Kawakami H, Yakushiji Y. Ono S, et al. Neurol Sci. 2025 Oct;46(10):5417-5421. doi: 10.1007/s10072-025-08332-2. Epub 2025 Jun 29. Neurol Sci. 2025. PMID: 40581671 Review.
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia caused by abnormal CAG expansions ( 34 repeats) in the ATXN2 gene (ATXN2), whereas intermediate CAG expansions (27-33 repeats …
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia caused by abnormal CAG …
Genetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Li XY, Lai H, Li X, Xu F, Song Y, Wang Z, Li Q, Lin R, Xu Z, Wang C. Li XY, et al. Eur J Neurol. 2024 Dec;31(12):e16441. doi: 10.1111/ene.16441. Epub 2024 Aug 17. Eur J Neurol. 2024. PMID: 39152783 Free PMC article.
Moreover, burden tests demonstrated that the pathogenic variants were enriched in cerebellar ataxia-related genes in patients. Furthermore, repeat expansion analyses revealed that two patients carried the pathogenic CAG repeat expansion i …
Moreover, burden tests demonstrated that the pathogenic variants were enriched in cerebellar ataxia-related genes in patients. Furthe …
Spinocerebellar Ataxia Type 2.
Scoles DR, Pulst SM. Scoles DR, et al. Adv Exp Med Biol. 2018;1049:175-195. doi: 10.1007/978-3-319-71779-1_8. Adv Exp Med Biol. 2018. PMID: 29427103 Review.
Spinocerebellar ataxia type 2 (SCA2) is autosomal dominantly inherited and caused by CAG repeat expansion in the ATXN2 gene. Because the CAG repeat expansion is localized to an encoded region of ATXN2, the result is an expan …
Spinocerebellar ataxia type 2 (SCA2) is autosomal dominantly inherited and caused by CAG repeat expansion …
Spinocerebellar Ataxia Type 17 (SCA17).
Toyoshima Y, Takahashi H. Toyoshima Y, et al. Adv Exp Med Biol. 2018;1049:219-231. doi: 10.1007/978-3-319-71779-1_10. Adv Exp Med Biol. 2018. PMID: 29427105 Review.
Subsequently, CAG/CAA repeat expansions in the TBP gene were identified in families with spinocerebellar ataxia (SCA), establishing this repeat expansion as the underlying mutation in SCA type 17 (SCA17). ...Because the gap between …
Subsequently, CAG/CAA repeat expansions in the TBP gene were identified in families with spinocerebellar atax …
Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms.
Moura J, Oliveira J, Santos M, Costa S, Silva L, Lemos C, Barros J, Sequeiros J, Damásio J. Moura J, et al. Cerebellum. 2024 Dec;23(6):2258-2268. doi: 10.1007/s12311-024-01723-9. Epub 2024 Jul 24. Cerebellum. 2024. PMID: 39048885 Free PMC article.
Spinocerebellar ataxias (SCA) are most frequently due to (CAG)(n) (coding for polyglutamine, polyQ) expansions and, less so, to expansion of other oligonucleotide repeats (non-polyQ) or other type of variants (non-repeat expansi …
Spinocerebellar ataxias (SCA) are most frequently due to (CAG)(n) (coding for polyglutamine, polyQ) expansions a …
1,363 results