SCA36 NOP56

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 fasiculations, 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 Details

Typical: 40-60⁵; Range: 28⁶- 67².

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.

Year

2011⁸

Location in Gene

Intron 1

Gene Strand

Alleles

Ref. Motif

GGCCTG

Pathogenic (ref.)

GGCCTG

Pathogenic (gene)

CCTGGG

gnomAD

Pathogenic Genotype (%): % of individuals predicted to be affected based on their genotype

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

omim:614153

pmid: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)

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

Whole Exome Sequencing Indicating GGCCTG Hexanucleotide Repeat in Patients with Spinocerebellar Ataxia Type 36.

Ran,Chen, Chao,Zhou, Yun,Peng, Pengcheng,Huang, Yanyan,Yu, Min,Zhu, Meihong,Zhou, Daojun,Hong, Dandan,Tan

Neuro-degenerative diseases · 2024-06-26

pmid:38934198

Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation.

Takuya,Morikawa, Shiroh,Miura, Yusuke,Uchiyama, Shigeyoshi,Hiruki, Yinrui,Sun, Ryuta,Fujioka, Hiroki,Shibata

Journal of human genetics · 2024-05-29

pmid:38811808

Investigating Repeat Expansions in

Paola,Ruffo, Francesca,De Amicis, Vincenzo,La Bella, Francesca Luisa,Conforti

Cells · 2024-04-14

pmid:38667292

Early-onset familial essential tremor is associated with nucleotide expansions of spinocerebellar ataxia in China.

Zhilin,Zheng, Zeyu,Zhu, Jiali,Pu, Chen,Zhou, Lanxiao,Cao, Dayao,Lv, Jinyu,Lu, Gaohua,Zhao, Yanxing,Chen, Jun,Tian, Xinzhen,Yin, Baorong,Zhang, Yaping,Yan, Guohua,Zhao

Molecular biology reports · 2024-01-16

pmid:38227102

Fast and reliable detection of repeat expansions in spinocerebellar ataxia using exomes.

Jean-Loup,Méreaux, Claire-Sophie,Davoine, Marie,Coutelier, Léna,Guillot-Noël, Anna,Castrioto, Perrine,Charles, Giulia,Coarelli, Claire,Ewenczyk, Stephan,Klebe, Anna,Heinzmann, Aurélie,Méneret, Anne-Laure,Fauret-Amsellem, Jean-Madeleine,de Sainte Agathe, Alexis,Brice, Alexandra,Durr

Journal of medical genetics · 2023-01-04

pmid:36599645

RNA G-quadruplex in live cells lighted-up by a thiazole orange analogue for SCA36 identification.

Ranran,Sun, Xiaomeng,Guo, Dawei,Yang, Xinchen,Cai, Qian,Li, Li,Yao, Hongxia,Sun, Yalin,Tang

International journal of biological macromolecules · 2022-12-23

pmid:36572080