SCA10 ATXN10

Spinocerebellar ataxia type 10 (SCA10) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by slowly progressive cerebellar syndrome and epilepsy, sometimes mild pyramidal signs, peripheral neuropathy and neuropsychological disturbances¹.

Prevalence

Unknown prevalence, >300 individuals. Cases have been identified in Mexico, Brazil, China, and Japan².

Age of Onset Details

Typical: 12-48; Range: 11-83².

Locus

hg19

chr22:46191235-46191304

hg38

chr22:45795355-45795424

t2t

chr22:46280060-46280129

Details

Unaffected individuals are usually (82%) compound heterozygotes in the benign range². Intermediate alleles show reduced penetrance, and exact distinction between intermediate and the lower end of the pathogenic range is unclear². Expansions are frequently interrupted by ATCCT, ATCCC, ATTCC, ATTTCT, ATATTCT, ATTCTTCT, or ATTCTTCT; interruptions of ATTGT, TTTCT, ATTTTCT, ATTCTCT have been noted³as has the interruption ATGCT⁴. The ATCCT interruption motif is associated with a higher prevalence of epileptic seizures⁵.

Mechanism

GoF

Transdominant mechanism theorized⁶.

Year

2000⁷

Location in Gene

Intron 9

Gene Strand

Alleles

Ref. Motif

ATTCT

Pathogenic (ref.)

ATTCT

Pathogenic (gene)

ATTCT

gnomAD

Pathogenic Genotype (%): % of individuals predicted to be affected based on their genotype

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0011330

Spinocerebellar Ataxia Type 10

Tohru,Matsuura, Tetsuo,Ashizawa

GeneReviews® · 1993-01-01

genereviews:NBK1175

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

pmid:36199580

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

pmid:19234597

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

pmid:24318420

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

pmid:38467784

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

H T,Orr, M Y,Chung, S,Banfi, T J,Kwiatkowski, A,Servadio, A L,Beaudet, A E,McCall, L A,Duvick, L P,Ranum, H Y,Zoghbi

Nature genetics · 1993-07-01

pmid:8358429

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

pmid:11017075

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

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

pmid:38961870

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

pmid:38832639

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

pmid:36092952

A FEMALE CASE OF SPINOCEREBELLAR ATAXIA TYPE 10 WITH SUICIDAL BEHAVIOR AND ENDOCRINPATHIES ASSOCIATED WITH A MASSIVE EXPANSION (ATTCT) OF THE GENE ATXN10.

Sergio A,Ramirez-Garcia, José,Sánchez-Corona, Víctor,Volpini-Bertran, María Cristina,Moran-Moguel, Susan A,Gutiérrez-Rubio, Gema,Castañeda-Cisneros, Javier,Jiménez-Gil, Diana,Garcia-Cruz

Actas espanolas de psiquiatria · 2022-01-01

pmid:35103298

ATXN10 Is Required for Embryonic Heart Development and Maintenance of Epithelial Cell Phenotypes in the Adult Kidney and Pancreas.

Melissa R,Bentley-Ford, Reagan S,Andersen, Mandy J,Croyle, Courtney J,Haycraft, Kelsey R,Clearman, Jeremy B,Foote, Jeremy F,Reiter, Bradley K,Yoder

Frontiers in cell and developmental biology · 2021-12-14

pmid:34970537

Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.

Anna I,Wernick, Ronald L,Walton, Alexandra I,Soto-Beasley, Shunsuke,Koga, Michael G,Heckman, Rebecca R,Valentino, Lukasz M,Milanowski, Dorota,Hoffman-Zacharska, Dariusz,Koziorowski, Anhar,Hassan, Ryan J,Uitti, William P,Cheshire, Wolfgang,Singer, Zbigniew K,Wszolek, Dennis W,Dickson, Phillip A,Low, Owen A,Ross

Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2021-01-27

pmid:33502644

Minidumbbell structures formed by ATTCT pentanucleotide repeats in spinocerebellar ataxia type 10.

Pei,Guo, Sik Lok,Lam

Nucleic acids research · 2020-07-27

pmid:32520333

Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10.

Vera,Hashem, Anjana,Tiwari, Brittani,Bewick, Helio A G,Teive, Mariana,Moscovich, Birgitt,Schüele, Khalaf,Bushara, Matt,Bower, Astrid,Rasmussen, Yu-Chih,Tsai, Tyson,Clark, Karen,McFarland, Tetsuo,Ashizawa

PloS one · 2020-03-11

pmid:32160188

Spinocerebellar ataxia type 10 (SCA10): Mutation analysis and common haplotype based inference suggest its rarity in Indian population.

Divya,Goel, Varun,Suroliya, Uzma,Shamim, Aradhna,Mathur, Mohammed,Faruq

eNeurologicalSci · 2019-10-24

pmid:31737797