SCA10 ATXN10

Disease ID
SCA10
Gene ID
ATXN10
Updated
Feb 5, 2025
v2.2.1

Disease

SCA
Name
Spinocerebellar Ataxia Type 10
Inheritance
Autosomal dominant
Description
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(Typical)Years11  8312  48
Age of Onset Details
Typical: 12-48; Range: 11-832 .

Locus

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 noted3 as 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
BenignIntermediatePathogenicUnits10  3233  850800  4,500

gnomAD

References

Direct supporting references for info on this page.

1
Ontology Lookup Service (OLS)
mondo:0011330
2
Spinocerebellar Ataxia Type 10
Tohru,Matsuura, Tetsuo,Ashizawa
GeneReviews® · 1993-01-01
genereviews:NBK1175
3
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
4
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
5
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
6
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
7
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)

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
pmid:39820777
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