Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by a cerebellar syndrome along with altered vertical eye movements¹.

Prevalence

0.20/100,000 in Portugal. First reported in Portugal and Spain with an Iberian founder effect, and also identified in a large German family [pmid:36148898].

Age of Onset

Typical: 33-53; Range: 15²-64³.

Association

Mendelian

Locus

hg19chr1:57832715-57832793

hg38chr1:57367043-57367121

t2tchr1:57245935-57245973

Details

Pathogenicity only associated with pathogenic motif >30 repeats, flanked by at least 58 repeats of reference motif on either side; reference repeat (AAAAT) can range from 1 to 400 repeats, although typically less than 30³. The pathogenic motif is unstable, particularly when transmitted by the father³.

Mechanism

GoF

Toxic gain-of-function mechanism in protein, associated with alternative splicing, an RNA switch, and an upregulation of reelin-DAB1 signalling^4,5.

Detection

Short-read sequencing, exome sequencing, and RP-PCR do not accurately detect this repeat, but long-range PCR with targeted Sanger sequencing is commonly used for detection and characterization³.

Year

2017⁶

Location in Gene

Intron 1 (most isoforms)

Gene Strand

Alleles

Ref. Motif

AAAAT

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

TGAAA

Pathogen. (gene)

TTTCA

Unknown (ref.)

AAAAA

Unknown (gene)

TTTTT

Interruption (ref.)

–

Interrup. (gene)

–

gnomAD

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0014410

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study.

Angela,Rosenbohm, Hendrik,Pott, Mirja,Thomsen, Haloom,Rafehi, Sabine,Kaya, Silke,Szymczak, Alexander E,Volk, Kathrin,Mueller, Isabel,Silveira, Jochen H,Weishaupt, Holger,Tönnies, Philip,Seibler, Katja,Zschiedrich, Susen,Schaake, Ana,Westenberger, Christine,Zühlke, Christel,Depienne, Joanne,Trinh, Albert C,Ludolph, Christine,Klein, Melanie,Bahlo, Katja,Lohmann

Movement disorders : official journal of the Movement Disorder Society · 2022-09-23

pmid:36148898

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genereviews:NBK541729

4omim:615945

Spinocerebellar ataxia: an update.

Roisin,Sullivan, Wai Yan,Yau, Emer,O'Connor, Henry,Houlden

Journal of neurology · 2018-10-03

pmid:30284037

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Ana I,Seixas, Joana R,Loureiro, Cristina,Costa, Andrés,Ordóñez-Ugalde, Hugo,Marcelino, Cláudia L,Oliveira, José L,Loureiro, Ashutosh,Dhingra, Eva,Brandão, Vitor T,Cruz, Angela,Timóteo, Beatriz,Quintáns, Guy A,Rouleau, Patrizia,Rizzu, Ángel,Carracedo, José,Bessa, Peter,Heutink, Jorge,Sequeiros, Maria J,Sobrido, Paula,Coutinho, Isabel,Silveira

American journal of human genetics · 2017-07-06

pmid:28686858

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)

Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy.

Jin-Yang,Yu, Yi-Min,Sun, Yi,Dong, Jian-Jun,Wu, Chen-Hao,Zhu, Yi-Chu,Du, Yi-Xin,Zhang, Yue,Zhang, Sheng-Mei,Zou, Yin,Ma, Hai-Lin,Dong, Zhi-Ying,Wu

Translational neurodegeneration · 2026-09-29

pmid:42806408

Unified long-read panel for Parkinson's and repeat expansion disorders.

André,Fienemann, Julia C,Prietzsche, Joshua,Laβ, Christoph,Much, Susen,Schaake, Theresa,Lüth, Carolin,Gabbert, Alexander,Zimprich, Elisabeth,Stögmann, Theresa,König, Christos,Ganos, Tuğçe,Gül-Demirkale, A Nazlı,Başak, Roland Dominic G,Jamora, Raymond L,Rosales, Gerard,Saranza, Cid Czarina E,Diesta, Meret,Möller, Max,Borsche, Teresa,Kleinz, Alexander,Balck, Norbert,Brüggemann, Philip,Seibler, Christine,Klein, Joanne,Trinh

NPJ Parkinson's disease · 2026-09-24

pmid:42786195

The insertion of an ATTTC repeat in an Alu element hyperactivates a neurodevelopmental enhancer in spinocerebellar ataxia type 37.

Joana R,Loureiro, Ana F,Castro, Ana S,Figueiredo, Ana,Eufrásio, Ashutosh,Dhingra, Mafalda,Galhardo, Hugo,Marcelino, Catarina C,Rodrigues, Paula,Sampaio, Maria,Azevedo, Mafalda,Sousa, Sofia,Dória, Patrizia,Rizzu, Peter,Heutink, José,Bessa, Isabel,Silveira

Cell reports · 2026-03-22

pmid:41871099

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.

Joke J F A,van Vugt, Ramona A J,Zwamborn, Egor,Dolzhenko, Michael A,Eberle, Ben,Weisburd, Erwin,Bekema, Maarten,Kooyman, Bi-Nan,Wang, Erik-Jan,Kamsteeg, Monique,Losekoot, Frank,Baas, Camilla,Novy, Helle,Høyer, Ruben P A,van Eijk, Michael A,van Es, Wouter,van Rheenen, Ammar,Al-Chalabi, Leonard H,van den Berg, Jan H,Veldink

Brain communications · 2025-12-09

pmid:41426430

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

Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability.

Christel,Depienne, Arn M J M,van den Maagdenberg, Theresa,Kühnel, Hiroyuki,Ishiura, Mark A,Corbett, Shoji,Tsuji

Epilepsia · 2023-01-22

pmid:36622139

Familial Cerebellar Ataxia and Amyotrophic Lateral Sclerosis/Frontotemporal Dementia with DAB1 and C9ORF72 Repeat Expansions: An 18-Year Study.

Movement disorders : official journal of the Movement Disorder Society · 2022-09-23

pmid:36148898

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

Prevalence of

Dona,Aboud Syriani, Darice,Wong, Sameer,Andani, Claudio M,De Gusmao, Yuanming,Mao, May,Sanyoura, Giacomo,Glotzer, Paul J,Lockhart, Sharon,Hassin-Baer, Vikram,Khurana, Christopher M,Gomez, Susan,Perlman, Soma,Das, Brent L,Fogel

Neurology. Genetics · 2020-05-20

pmid:32582864

Locus SCA37 DAB1

Disease

Locus

Alleles

gnomAD

References

Additional Literature