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: 12-48; Range: 11-83².

HPO Terms

–

Association

Mendelian

Locus

hg19 chr22:46191234-46191304

hg38 chr22:45795354-45795424

t2t chr22:46280059-46280134

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, or ATTCTTCT; interruptions of ATTGT, TTTCT, ATTTTCT, ATTCTCT, GTTTCT, CTTCT, and ATTCTAT have been noted³as has the interruption ATGCT⁴. The ATCCT interruption motif is associated with a higher prevalence of epileptic seizures⁵. Different motif patterns and mixed motif ratios may influence age of onset and anticipation⁶. One study suggests that alleles with completely pure ATTCT expansions are non-pathogenic, and that repeat interruptions such as ATTCC, are necessary to cause SCA10⁷.

Mechanism

GoF

Transdominant mechanism theorized⁸.

Detection

RP-PCR with fragment analysis is commonly used for detection. Pathogenicity depends heavily on interruptions, so long-read sequencing approaches have been used for full structure resolution [@pmid:26295943; @pmid:32160188].

Year

2000⁹

Location in Gene

Intron 9

Gene Strand

Alleles

Ref. Motif

ATTCT

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

ATTCT

Pathogenic (gene)

ATTCT

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

ATCCT, ATCCC, ATTCC, ATTTCT, ATATTCT, ATTCTTCT, ATTGT, TTTCT, ATTTTCT, ATTCTCT, GTTTCT, CTTCT, ATGCT

Interruption (gene)

ATCCT, ATCCC, ATTCC, ATTTCT, ATATTCT, ATTCTTCT, ATTGT, CTTTT, ATTTTCT, ATTCTCT, CTGTTT, CTCTT, ATGCT

gnomAD

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0011330

2genereviews: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

Novel

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

Neurology. Genetics · 2025-11-10

pmid:41229449

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

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

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)

Novel

Neurology. Genetics · 2025-11-10

pmid:41229449

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

pmid:41074692

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

pmid:40900235

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-Pagès, 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 U,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 · 2026-03-05

pmid:40898875

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

pmid:40488180

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

pmid:40067487

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

Locus SCA10 ATXN10

Disease

Locus

Alleles

gnomAD

References

Additional Literature