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. Some affected individuals may develop hearing loss^2,3.

Prevalence

Western Japan: 3.6% of all SCA; Costa da Morte region of Spain: 6.3% of all SCA⁴; US: 0.7% of large undiagnosed ataxia cohort⁵. Found across ancestries/ethnicities³.

Age of Onset

Typical: 40-60⁶; Range: 28⁷- 67⁴.

Association

Mendelian

Locus

hg19chr20:2633378-2633403

hg38chr20:2652732-2652757

t2tchr20:2683189-2683230

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 elucidated⁶. Interruptions documented: GGCTG, GGCCCTG, GGCCG, and GGCCTTG⁸.

Mechanism

GoF

Toxic RNA-mediated GoF: The expanded GGCCTG transcripts accumulate as nuclear RNA foci that sequester splicing factor SRSF2⁹. Additionally, toxic protein GoF through RAN translation has been implicated as an additional driver of pathogenicity^10,11.

Detection

RP-PCR with fragment analysis can detect but not size expansions, which makes it unable to tell if the pathogenic threshold has been reached. Long-read sequencing has accurately sized alleles⁸.

Year

2011⁹

Location in Gene

Intron 1

Gene Strand

Alleles

Ref. Motif

GGCCTG

Ranges

Benign (ref.)

–

Benign (gene)

–

Pathogenic (ref.)

CCTGGG

Pathogen. (gene)

CCTGGG

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

CTGGG, CCCTGGG, CCGGG, CCTTGG

Interrup. (gene)

CTGGG, CCCTGGG, CCGGG, CCTTGG

gnomAD

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0013594

Acoustic impairment is a distinguishable clinical feature of Asidan/SCA36.

Yoshio,Ikeda, Yasuyuki,Ohta, Tomoko,Kurata, Yoshihiko,Shiro, Yoshiki,Takao, Koji,Abe

Journal of the neurological sciences · 2012-11-07

pmid:23140984

3omim:614153

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

6pmid: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

Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo.

Tiffany W,Todd, Zachary T,McEachin, Jeannie,Chew, Alexander R,Burch, Karen,Jansen-West, Jimei,Tong, Mei,Yue, Yuping,Song, Monica,Castanedes-Casey, Aishe,Kurti, Judith H,Dunmore, John D,Fryer, Yong-Jie,Zhang, Beatriz,San Millan, Susana,Teijeira Bautista, Manuel,Arias, Dennis,Dickson, Tania F,Gendron, María-Jesús,Sobrido, Matthew D,Disney, Gary J,Bassell, Wilfried,Rossoll, Leonard,Petrucelli

Cell reports · 2020-05-05

pmid:32375043

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

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

Optimized Cas9-Enriched Nanopore Sequencing and Analysis Workflow for Clinical Diagnosis of Repeat Expansion Disorders.

Seungbok,Lee, Chanju,Jung, Minjeong,Kim, Narae,Kim, Gue-Ho,Hwang, Soon-Tae,Lee, Kon,Chu, Sang Kun,Lee, Han-Joon,Kim, Jong-Hee,Chae, Sangsu,Bae, Jangsup,Moon

Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026-08-29

pmid:42667167

Haplotype analysis of spinocerebellar ataxia type 36 suggests a shared permissive core haplotype across populations.

Katsuki,Eguchi, Satoko,Miyatake, Asako,Takei, Hiroaki,Yaguchi, Yuki,Iida, Shinsuke,Hamada, Yoshiko,Ito, Sanae,Honma, Fumio,Moriwaka, Taishi,Wada, Takashi,Jono, Misako,Kunii, Hiroyasu,Komiya, Hitaru,Kishida, Hiroshi,Doi, Fumiaki,Tanaka, Naomichi,Matsumoto, Ichiro,Yabe

Journal of human genetics · 2026-07-01

pmid:42387149

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

Locus SCA36 NOP56

Disease

Locus

Alleles

gnomAD

References

Additional Literature