SCA10 ATXN10

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The genetic and molecular features of the intronic pentanucleotide repeat expansion in spinocerebellar ataxia type 10.

Tatsuaki,Kurosaki, Tetsuo,Ashizawa

Frontiers in genetics · 2022-09-15

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).

Teresa,Almeida, Isabel,Alonso, Sandra,Martins, Eliana Marisa,Ramos, Luísa,Azevedo, Kinji,Ohno, António,Amorim, Maria Luiza,Saraiva-Pereira, Laura Bannach,Jardim, Tohru,Matsuura, Jorge,Sequeiros, Isabel,Silveira

PloS one · 2009-02-23

Repeat interruptions in spinocerebellar ataxia type 10 expansions are strongly associated with epileptic seizures.

Karen N,McFarland, Jilin,Liu, Ivette,Landrian, Desmond,Zeng, Salmo,Raskin, Mariana,Moscovich, Emilia M,Gatto, Adriana,Ochoa, Hélio A G,Teive, Astrid,Rasmussen, Tetsuo,Ashizawa

Neurogenetics · 2013-12-07

Novel ATXN10 repeat motif patterns in Peruvian families modify disease age at onset

Kamilla,Sedov, Carla,Manrique-Enciso, Madison James,Yang, Ismael,Araujo-Aliaga, Egor,Dolzhenko, Samantha,Kalla, Sarah,Kingan, Elison,Sarapura-Castro, Andrea,Rivera-Valdivia, Maryenela,Illanes-Manrique, Mario,Cornejo-Olivas, Birgitt,Schuele

Springer Science and Business Media LLC · 2025-02-12

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.

T,Matsuura, T,Yamagata, D L,Burgess, A,Rasmussen, R P,Grewal, K,Watase, M,Khajavi, A E,McCall, C F,Davis, L,Zu, M,Achari, S M,Pulst, E,Alonso, J L,Noebels, D L,Nelson, H Y,Zoghbi, T,Ashizawa

Nature genetics · 2000-10-01

Association of Non-Coding Repeat Expansions with Parkinson's Disease Risk: Evidence from a UK Biobank-Based Whole-Genome Sequencing Study.

Zhen,Hu, Qin-Qin,Yan, Jing-Jin,Wan, Yu,Fan, Jun,Liu

Movement disorders : official journal of the Movement Disorder Society · 2025-10-11

The Case of Spinocerebellar Ataxias in Amazonas (Northern Brazil): An Analysis of Disease Frequency from a Geographic, Historical, and Genetic-Evolutionary Perspective.

Diana Vieira,Brito, Marcus Vinicius,Della Coletta, Giselle Benevides Monteiro,Ferreira, Sabrina Rodrigues,da Silva, Patricia Batista de,Azevedo, Cleiton,Fantin

Cerebellum (London, England) · 2025-09-03

Repeat-associated ataxias in a German patient cohort analysed by targeted parallel long-read sequencing.

Hannes,Erdmann, Annalisa,Schaub, Morghan C,Lucas, Veronika,Scholz, Anna,Benet-Pages, Kerstin,Becker, Christine,Dineiger, Veronika,Mayer, Inga,van Buren, Eva,Breithausen, Karl,Akbari, Isabell,Cordts, Mayra,Sauer, Christine,Schneider, Rosanna,Krakowsky, Franziska,Schnabel, Konstanze,Dunker, Lena,Fabritius, Johannes,Gerb, Denis,Grabova, Ken,Möhwald, Marius,Näher, Karoline,Steinmetz, Franziska,Thiessen, Alexander,Jäck, Christiane,Schneider-Gold, Simone,Zittel, Christina,Petersen, Isolde,Schreyer, Larissa,Mämecke, Sibylle,Wilfling, Gilbert,Wunderlich, David,Brenner, Yorck,Hellenbroich, Kirsten,Muhle, Tessa,Huchtemann, Inga,Claus, Thomas,Klopstock, Michael,Strupp, Johannes,Levin, Günter,Höglinger, Doreen,Huppert, Sandra,Becker-Bense, Filipp,Filippopulos, Fabian,Kilpert, Elsa,Leitão, Sabine,Kaya, Christel,Depienne, Florian,Schöberl, Teresa,Neuhann, Elke,Holinski-Feder, Andreas,Zwergal, Angela,Abicht

Brain : a journal of neurology · 2025-09-03

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Wai Yan,Yau, Roisin,Sullivan, Emer,O'Connor, David,Pellerin, Michael H,Parkinson, Paola,Giunti, Marie-Josée,Dicaire, Matt C,Danzi, Stephan,Züchner, Bernard,Brais, Nicholas W,Wood, Henry,Houlden, Jana,Vandrovcova

Brain communications · 2025-05-17

The impact of interrupted ATXN10 expansions on clinical findings of spinocerebellar ataxia type 10.

Ali,Hasan, Gabriel Vasata,Furtado, Elaine,Miglorini, Rafaella,Mergener, Breno,Massuyama, Orlando,Barsottini, José Luiz,Pedroso, Helio G,Teive, Maria Luiza,Saraiva-Pereira, Tetsuo,Ashizawa, Laura Bannach,Jardim

Journal of neurology · 2025-03-11

ATXN10 Gene Expansions in Mexican Patients with Ataxia Without Epilepsy.

Aurelio,Jara-Prado, Eukeni,Arias-Capistran, Jorge,Guerrero-Camacho, Adriana,Ochoa-Morales, Marie Catherine,Boll, David,Dávila-Ortíz de Montellano, Astrid,Rasmussen, Tetsuo,Ashizawa, Juan,Fernandez-Ruiz, Petra,Yescas-Gómez, Miguel Ángel,Ramírez-García

Cerebellum (London, England) · 2025-01-16

Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor.

Xun,Zhou, Runcheng,He, Sheng,Zeng, Mingqiang,Li, Hongxu,Pan, Yuwen,Zhao, Zhenhua,Liu, Qian,Xu, Jifeng,Guo, Xinxiang,Yan, Jinchen,Li, Beisha,Tang, Qiying,Sun

Brain communications · 2024-06-29

Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.

Karen N,McFarland, Anjana,Tiwari, Vera,Hashem, Linwei,Zhang, Desmond,Zeng, Justin,Vincent, Maria J,Arredondo, Kristy L,Johnson, Shi Rui,Gan, Ichiro,Yabe, Laurits,Skov, Astrid,Rasmussen, Tetsuo,Ashizawa

Human molecular genetics · 2024-09-03

ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10.

C Alejandra,Morato Torres, Faria,Zafar, Yu-Chih,Tsai, Jocelyn Palafox,Vazquez, Michael D,Gallagher, Ian,McLaughlin, Karl,Hong, Jill,Lai, Joyce,Lee, Amanda,Chirino-Perez, Angel Omar,Romero-Molina, Francisco,Torres, Juan,Fernandez-Ruiz, Tetsuo,Ashizawa, Janet,Ziegle, Francisco Javier,Jiménez Gil, Birgitt,Schüle

HGG advances · 2022-08-15