Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasciculations, tongue atrophy and hyperreflexia¹.

Prevalence

Western Japan: 3.6% of all SCA; Costa da Morte region of Spain: 6.3% of all SCA²; US: 0.7% of large undiagnosed ataxia cohort³. Found across ancestries/ethnicities⁴.

Age of Onset

Typical: 40-60⁵; Range: 28⁶- 67².

HPO Terms

–

Association

Mendelian

Locus

hg19 chr20:2633378-2633403

hg38 chr20:2652732-2652757

t2t chr20:2683189-2683230

Details

Benign alleles range from 3-14 repeats and pathogenic alleles (650+ repeats) appear fully penetrant; the significance of intermediate alleles has yet to be elucidated⁵. Interruptions documented: GGCTG, GGCCCTG, GGCCG, and GGCCTTG⁷.

Mechanism

GoF

Toxic protein gain-of-function, RAN translation⁴.

Detection

RP-PCR with fragment analysis has been used to detect these expansions [@pmid:21683323]. Long-read sequencing has accurately sized alleles [@pmid:37051597].

Year

2011⁸

Location in Gene

Intron 1

Gene Strand

Alleles

Ref. Motif

GGCCTG

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

GGCCTG

Pathogenic (gene)

CCTGGG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

GGCTG, GGCCCTG, GGCCG, GGCCTT

Interruption (gene)

CTGGG, CCCTGGG, CCGGG, CCTTGG

gnomAD

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0013594

Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.

Raquel,Baviera-Muñoz, Lidón,Carretero-Vilarroig, Nuria,Muelas, Rafael,Sivera, Pablo,Sopena-Novales, Begoña,Martínez-Sanchis, Isabel,Sastre-Bataller, Marina,Campins-Romeu, Irene,Martínez-Torres, Jose Manuel,García-Verdugo, Jose M,Millán, Teresa,Jaijo, Elena,Aller, Luis,Bataller

Movement disorders clinical practice · 2023-05-05

pmid:37332636

Prevalence of spinocerebellar ataxia 36 in a US population.

Juliana M,Valera, Tatyana,Diaz, Lauren E,Petty, Beatriz,Quintáns, Zuleima,Yáñez, Eric,Boerwinkle, Donna,Muzny, Dmitry,Akhmedov, Rebecca,Berdeaux, Maria J,Sobrido, Richard,Gibbs, James R,Lupski, Daniel H,Geschwind, Susan,Perlman, Jennifer E,Below, Brent L,Fogel

Neurology. Genetics · 2017-07-18

pmid:28761930

4omim:614153

5pmid:25101480

Repeat expansions in

Tanya,Lam, Clarissa,Rocca, Kristina,Ibanez, Anupriya,Dalmia, Samuel,Tallman, Marios,Hadjivassiliou, Anke,Hensiek, Andrea,Nemeth, Stefano,Facchini, Nicholas,Wood, Andrea,Cortese, Henry,Houlden, Arianna,Tucci

Brain communications · 2023-09-14

pmid:37810464

A Chinese SCA36 pedigree analysis of

Jinlong,Zou, Fengyu,Wang, Zhenping,Gong, Runrun,Wang, Shuai,Chen, Haohan,Zhang, Ruihua,Sun, Chenhao,Gao, Wei,Li, Junkui,Shang, Jiewen,Zhang

Frontiers in genetics · 2023-03-27

pmid:37051597

Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement.

Hatasu,Kobayashi, Koji,Abe, Tohru,Matsuura, Yoshio,Ikeda, Toshiaki,Hitomi, Yuji,Akechi, Toshiyuki,Habu, Wanyang,Liu, Hiroko,Okuda, Akio,Koizumi

American journal of human genetics · 2011-06-16

pmid:21683323

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)

Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias.

Carolin K,Scriba, Chiara,Folland, Michael,Black, Jessica,Baker, Daniel,Abromeit, Samantha,Saw, Mei-Ting,Chiew, Rebecca,Gooding, Nigel G,Laing, Mark R,Davis, Gianina,Ravenscroft

Brain communications · 2026-03-16

pmid:42038259

A fly model of SCA36 reveals combinatorial neurotoxicity of hexanucleotide and dipeptide repeats.

Cheng-Tsung,Hsiao, Ssu-Ju,Fu, Ting-Ni,Guo, Chia-Chi,Lin, Yu-Jung,Tsao, Wenying,Chang, Yi-Chu,Liao, Masayuki,Hashimoto, Shu-Yi,Huang, Yi-Chung,Lee, Chien-Hung,Yu, Chih-Chiang,Chan

PLoS genetics · 2025-12-03

pmid:41337098

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

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

Non-coding repeat analyses in patients with Parkinson's disease.

Makito,Hirano, Makoto,Samukawa, Satoko,Miyatake, Yuko,Yamagishi, Chiharu,Isono, Rino,Yoshikawa, Kazumasa,Saigoh, Atsushi,Terayama, Yuji,Higashimoto, Eriko,Koshimizu, Takeshi,Mizuguchi, Kanako,Fujii, Yoshiyuki,Mitsui, Naomichi,Matsumoto, Yoshitaka,Nagai

Frontiers in neurology · 2025-07-22

pmid:40765612

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

Dissecting the mechanism of NOP56 GGCCUG repeat-associated non-AUG translation using cell-free translation systems.

Mayuka,Hasumi, Hayato,Ito, Kodai,Machida, Tatsuya,Niwa, Tomoya,Taminato, Yoshitaka,Nagai, Hiroaki,Imataka, Hideki,Taguchi

The Journal of biological chemistry · 2025-02-25

pmid:40015643

Analysis of Short Tandem Repeat Expansions in a Cohort of 12,496 Exomes from Patients with Neurological Diseases Reveals Variable Genotyping Rate Dependent on Exome Capture Kits.

Clarissa,Rocca, David,Murphy, Chris,Clarkson, Matteo,Zanovello, Delia,Gagliardi, Queen Square,Genomics, Rauan,Kaiyrzhanov, Javeria,Alvi, Reza,Maroofian, Stephanie,Efthymiou, Tipu,Sultan, Jana,Vandrovcova, James,Polke, Robyn,Labrum, Henry,Houlden, Arianna,Tucci

Genes · 2025-01-28

pmid:40004498

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

Locus SCA36 NOP56

Disease

Locus

Alleles

gnomAD

References

Additional Literature