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, Guatemala, and Japan^2,3.

Age of Onset

Typical: 12-48; Range: 11-83².

HPO Terms

HP:0000012 Urinary urgency HP:0000020 Urinary incontinence HP:0000639 Nystagmus HP:0000640 Gaze-evoked nystagmus HP:0000716 Depression HP:0000718 Aggressive behavior HP:0000726 Dementia HP:0000741 Apathy HP:0000762 Decreased nerve conduction velocity HP:0001250 Seizure HP:0001260 Dysarthria HP:0001265 Hyporeflexia HP:0001271 Polyneuropathy HP:0001272 Cerebellar atrophy HP:0001290 Generalized hypotonia HP:0001310 Dysmetria HP:0001347 Hyperreflexia HP:0002015 Dysphagia HP:0002061 Lower limb spasticity HP:0002062 Abnormal pyramidal tract morphology HP:0002066 Gait ataxia HP:0002067 Bradykinesia HP:0002070 Limb ataxia HP:0002071 Abnormality of extrapyramidal motor function HP:0002073 Progressive cerebellar ataxia HP:0002075 Dysdiadochokinesis HP:0002080 Intention tremor HP:0002133 Status epilepticus HP:0002141 Gait imbalance HP:0002168 Scanning speech HP:0002197 Generalized-onset seizure HP:0002311 Incoordination HP:0002317 Unsteady gait HP:0002360 Sleep disturbance HP:0002384 Focal impaired awareness seizure HP:0002936 Distal sensory impairment HP:0003487 Babinski sign HP:0007256 Abnormal pyramidal sign HP:0007289 Limb fasciculations HP:0007772 Impaired smooth pursuit HP:0011153 Focal motor seizure HP:0011198 EEG with generalized epileptiform discharges HP:0030186 Kinetic tremor HP:0100660 Dyskinesia

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 noted⁴as has the interruption ATGCT⁵. The ATCCT interruption motif is associated with a higher prevalence of epileptic seizures⁶. Different motif patterns and mixed motif ratios may influence age of onset and anticipation⁷. One study suggests that alleles with completely pure ATTCT expansions are non-pathogenic, and that repeat interruptions such as ATTCC are necessary to cause SCA10⁸.

Mechanism

GoF

Transdominant mechanism theorized⁹.

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^10,11.

Year

2000¹²

Location in Gene

Intron 9

Gene Strand

Alleles

Ref. Motif

ATTCT

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

ATTCT

Pathogen. (gene)

ATTCT

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

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

Interrup. (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

Spinocerebellar Ataxia Type 10

Tohru,Matsuura, Tetsuo,Ashizawa

GeneReviews® · 1993-01-01

genereviews:NBK1175

Spinocerebellar ataxia type 10 in a Guatemalan family: Characterization and preliminary evaluation of neurofilament light chain as a biomarker.

Tomasz,Chmiela, Ignacio,Pozo Cabanell, Leonard,Petrucelli, Mercedes,Prudencio, Zbigniew K,Wszolek

Parkinsonism & related disorders · 2026-06-18

pmid:42320256

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

SMRT Sequencing of Long Tandem Nucleotide Repeats in SCA10 Reveals Unique Insight of Repeat Expansion Structure.

Karen N,McFarland, Jilin,Liu, Ivette,Landrian, Ronald,Godiska, Savita,Shanker, Fahong,Yu, William G,Farmerie, Tetsuo,Ashizawa

PloS one · 2015-08-21

pmid:26295943

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

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)

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

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

Locus SCA10 ATXN10

Disease

Locus

Alleles

gnomAD

References

Additional Literature