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102 results

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Page 1
Novel ATXN10 Repeat Motif Patterns in Peruvian Families Modify Disease Onset.
Sedov K, Manrique-Enciso C, Yang MJ, Araujo-Aliaga I, Dolzhenko E, Kalla S, Kingan SB, Sarapura-Castro E, Valdivia AR, Illanes-Manrique MZ, Cornejo-Olivas M, Schüle B. Sedov K, et al. Neurol Genet. 2025 Nov 10;11(6):e200316. doi: 10.1212/NXG.0000000000200316. eCollection 2025 Dec. Neurol Genet. 2025. PMID: 41229449 Free PMC article.
METHODS: We used a novel multiplex 20-gene panel with Cas9-targeted, amplification-free long-read sequencing (LRS) and optical genome mapping to elucidate ATXN10 repeat motif patterns and investigated genotype-phenotype correlations in index cases of 6 multigenerational SC …
METHODS: We used a novel multiplex 20-gene panel with Cas9-targeted, amplification-free long-read sequencing (LRS) and optical genome mappin …
ATXN10 Microsatellite Distribution in a Peruvian Amerindian Population.
Véliz-Otani D, Inca-Martinez M, Bampi GB, Ortega O, Jardim LB, Saraiva-Pereira ML, Mazzetti P, Cornejo-Olivas M. Véliz-Otani D, et al. Cerebellum. 2019 Oct;18(5):841-848. doi: 10.1007/s12311-019-01057-x. Cerebellum. 2019. PMID: 31342269
To test whether the allele distribution of the SCA10-causing ATXN10 microsatellite in an Amerindian Peruvian population differs from that of other populations. The ATXN10 allele distribution in a Quechua Peruvian population from Puno, Peru, is similar to that of Fin …
To test whether the allele distribution of the SCA10-causing ATXN10 microsatellite in an Amerindian Peruvian population differs from …
ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy.
Jara-Prado A, Arias-Capistran E, Guerrero-Camacho J, Ochoa-Morales A, Boll MC, Dávila-Ortíz de Montellano D, Rasmussen A, Ashizawa T, Fernandez-Ruiz J, Yescas-Gómez P, Ramírez-García MÁ. Jara-Prado A, et al. Cerebellum. 2025 Jan 16;24(2):33. doi: 10.1007/s12311-024-01784-w. Cerebellum. 2025. PMID: 39820777
Triplet repeat-primed PCR (TP-PCR) was performed to identify ATXN10 gene expansions. 19.6% (n = 36) of the samples showed ATXN10 expansions, with a higher proportion of hereditary AD cases (30.2%; n = 26) compared to sporadic cases (10.3%; n = 10). ...
Triplet repeat-primed PCR (TP-PCR) was performed to identify ATXN10 gene expansions. 19.6% (n = 36) of the samples showed ATXN10 …
Expanded ATXN10 Alleles in Neurodegenerative Disorders: A Case Series and Review of the Literature.
Cornejo-Olivas M, Raney A, Abad A, Sedov K, Sarapura-Castro E, Sosa HM, Manrique-Enciso C, Torres CAM, Illanes-Manrique M, Dolzhenko E, Rivera-Valdivia A, Qiao W, Schüle B. Cornejo-Olivas M, et al. Mov Disord Clin Pract. 2026 Aug 8:10.1002/mdc3.70765. doi: 10.1002/mdc3.70765. Online ahead of print. Mov Disord Clin Pract. 2026. PMID: 42569794 Review.
BACKGROUND: Spinocerebellar ataxia type 10 (SCA10 or ATX-ATXN10) is typically attributed to large intronic ATTCT repeat expansions in ATXN10, yet interpretation is complicated by repeat interruptions, reduced penetrance, and assay limitations. ...CONCLUSION: Our thr …
BACKGROUND: Spinocerebellar ataxia type 10 (SCA10 or ATX-ATXN10) is typically attributed to large intronic ATTCT repeat expansions in …
ATXN10 Is Required for Embryonic Heart Development and Maintenance of Epithelial Cell Phenotypes in the Adult Kidney and Pancreas.
Bentley-Ford MR, Andersen RS, Croyle MJ, Haycraft CJ, Clearman KR, Foote JB, Reiter JF, Yoder BK. Bentley-Ford MR, et al. Front Cell Dev Biol. 2021 Dec 14;9:705182. doi: 10.3389/fcell.2021.705182. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 34970537 Free PMC article.
How Atxn10 disruption contributes to these disorders remains unknown. Here, we generated Atxn10 congenital and conditional mutant mouse models. ...Loss of ATXN10 results in severe pancreatic and renal abnormalities leading to lethality within a few weeks post …
How Atxn10 disruption contributes to these disorders remains unknown. Here, we generated Atxn10 congenital and conditional mut …
Hereditary Ataxia Overview.
Perlman S. Perlman S. 1998 Oct 28 [updated 2026 Jul 9]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 1998 Oct 28 [updated 2026 Jul 9]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301317 Free Books & Documents. Review.
Parkinson's disease associated with pure ATXN10 repeat expansion.
Schüle B, McFarland KN, Lee K, Tsai YC, Nguyen KD, Sun C, Liu M, Byrne C, Gopi R, Huang N, Langston JW, Clark T, Gil FJJ, Ashizawa T. Schüle B, et al. NPJ Parkinsons Dis. 2017 Sep 5;3:27. doi: 10.1038/s41531-017-0029-x. eCollection 2017. NPJ Parkinsons Dis. 2017. PMID: 28890930 Free PMC article.
These ATXN10 repeat expansions can be interrupted by sequence motifs which have been attributed to seizures and are likely to act as genetic modifiers. ...However, one affected individual presented with early-onset levodopa-responsive parkinsonism, and one family member ca …
These ATXN10 repeat expansions can be interrupted by sequence motifs which have been attributed to seizures and are likely to act as …
The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.
Hasan A, Furtado GV, Miglorini E, Mergener R, Massuyama B, Barsottini O, Pedroso JL, Teive HG, Saraiva-Pereira ML, Ashizawa T, Jardim LB. Hasan A, et al. J Neurol. 2025 Mar 11;272(4):261. doi: 10.1007/s00415-025-13003-5. J Neurol. 2025. PMID: 40067487
BACKGROUND: Spinocerebellar ataxia type 10 (SCA10), due to an ATTCT repeat expansion in ATXN10, has variable expressivity and the role of presence (ATTCTint +) and absence (ATTCTint-) of interruptions in the repeat is not clear. ...
BACKGROUND: Spinocerebellar ataxia type 10 (SCA10), due to an ATTCT repeat expansion in ATXN10, has variable expressivity and the rol …
Novel Intermediate ATXN10 Alleles in the Healthy Peruvian Population: A Matter of Indigenous American Ethnic Origin.
Milla-Neyra K, Araujo-Aliaga I, Manrique-Enciso C, Sarapura-Castro E, Illanes-Manrique M, Veliz-Otani D, Saldarriaga-Mayo A, Medina-Colque A, Rios-Pinto J, Cornejo-Herrera I, Rivera-Valdivia A, F Mata I, Loesch D, Lozano-Vasquez L, Bordia T, O'Connor T, Schüle B, Cornejo-Olivas M. Milla-Neyra K, et al. Cerebellum. 2025 Feb 7;24(2):44. doi: 10.1007/s12311-025-01795-1. Cerebellum. 2025. PMID: 39918768
SCA10 is caused by an expansion of ATTCT repeat within the ATXN10 gene. Healthy individuals carry 9-32 ATTCT repeats, whereas SCA10 patients carry an expansion of 280 repeats and higher. ...This study aims to characterize the variability of the ATTCT repeats within the …
SCA10 is caused by an expansion of ATTCT repeat within the ATXN10 gene. Healthy individuals carry 9-32 ATTCT repeats, whereas SCA10 p …
102 results