SCA31 BEAN1

Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties¹.

Prevalence

Has been found in Japanese populations²and then once respectively in a Korean and a Chinese family³.

Age of Onset Details

Typical: 56-62³; Range: 8-83⁴.

Locus

hg19

chr16:66524300-66524369

hg38

chr16:66490397-66490466

t2t

chr16:72284667-72284761

Details

This locus is a novel STR-containing insertion, not present in reference genome; the pathogenic threshold (110-760) is based on the pure repeat of the pathogenic motif within the insertion⁵.

Mechanism

GoF

RNA toxicity and gain of function leading to neurodegeneration⁶. Role in heterochromatin or chromosomal structure theorized².

Year

2009⁵

Location in Gene

Intron 4/4

Gene Strand

Alleles

Ref. Motif

AATAA

Pathogenic (ref.)

TGGAA, TAGAA

Pathogenic (gene)

AATGG, AATAG

Unknown (ref.)

AAAAA, AAAAC, AAATG, AGAAA, ATAAG, TAAAC, TAACA, TACAA, TCAAA, TGCAA

Unknown (gene)

AAAAA, AAAAC, AAATG, AAAAG, AAGAT, AAACT, AACAT, AATAC, AAATC, AATGC

gnomAD

References

Direct supporting references for info on this page.

Ontology Lookup Service (OLS)

mondo:0007296

omim:117210

Spinocerebellar ataxia type 31: A clinical and radiological literature review.

Jacob,Saucier, Mohammad,Al-Qadi, Mouna Ben,Amor, Kinya,Ishikawa, Ludivine,Chamard-Witkowski

Journal of the neurological sciences · 2022-12-16

pmid:36563608

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.

Shinsuke,Fujioka, Christina,Sundal, Zbigniew K,Wszolek

Orphanet journal of rare diseases · 2013-01-18

pmid:23331413

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.

Nozomu,Sato, Takeshi,Amino, Kazuhiro,Kobayashi, Shuichi,Asakawa, Taro,Ishiguro, Taiji,Tsunemi, Makoto,Takahashi, Tohru,Matsuura, Kevin M,Flanigan, Sawa,Iwasaki, Fumitoshi,Ishino, Yuko,Saito, Shigeo,Murayama, Mari,Yoshida, Yoshio,Hashizume, Yuji,Takahashi, Shoji,Tsuji, Nobuyoshi,Shimizu, Tatsushi,Toda, Kinya,Ishikawa, Hidehiro,Mizusawa

American journal of human genetics · 2009-10-29

pmid:19878914

Phenotype and management of neurologic intronic repeat disorders (NIRDs).

J,Finsterer

Revue neurologique · 2022-11-10

pmid:36371266

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)

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

Incidence of different pressure patterns of spinal cerebellar ataxia and analysis of imaging and genetic diagnosis.

Yufen,Peng, Qi,Tu, Yao,Han, Liang,Gao, Chenyi,Wan

Open life sciences · 2023-12-12

pmid:38152578

Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan.

Keiichi,Mizushima, Yuka,Shibata, Shinichi,Shirai, Masaaki,Matsushima, Satoko,Miyatake, Ikuko,Iwata, Hiroaki,Yaguchi, Naomichi,Matsumoto, Ichiro,Yabe

Journal of human genetics · 2023-10-17

pmid:37848721

Synthesis and cloning of long repeat sequences using single-stranded circular DNA.

Afsana,Bhuiyan, Shuichi,Asakawa

Frontiers in bioengineering and biotechnology · 2023-03-09

pmid:36970617

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

Thymidine Kinase 2 and Mitochondrial Protein COX I in the Cerebellum of Patients with Spinocerebellar Ataxia Type 31 Caused by Penta-nucleotide Repeats (TTCCA)

Hanako,Aoki, Miwa,Higashi, Michi,Okita, Noboru,Ando, Shigeo,Murayama, Kinya,Ishikawa, Takanori,Yokota

Cerebellum (London, England) · 2022-01-27

pmid:35084690

Midbrain atrophy related to parkinsonism in a non-coding repeat expansion disorder: five cases of spinocerebellar ataxia type 31 with nigrostriatal dopaminergic dysfunction.

Ryohei,Norioka, Keizo,Sugaya, Aki,Murayama, Tomoya,Kawazoe, Shinsuke,Tobisawa, Akihiro,Kawata, Kazushi,Takahashi

Cerebellum & ataxias · 2021-03-30

pmid:33785066

Small molecule targeting r(UGGAA)

Tomonori,Shibata, Konami,Nagano, Morio,Ueyama, Kensuke,Ninomiya, Tetsuro,Hirose, Yoshitaka,Nagai, Kinya,Ishikawa, Gota,Kawai, Kazuhiko,Nakatani

Nature communications · 2021-01-11

pmid:33431896

Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS.

Haruko,Nakamura, Hiroshi,Doi, Satomi,Mitsuhashi, Satoko,Miyatake, Kazutaka,Katoh, Martin C,Frith, Tetsuya,Asano, Yosuke,Kudo, Takuya,Ikeda, Shun,Kubota, Misako,Kunii, Yu,Kitazawa, Mikiko,Tada, Mitsuo,Okamoto, Hideto,Joki, Hideyuki,Takeuchi, Naomichi,Matsumoto, Fumiaki,Tanaka

Journal of human genetics · 2020-02-18

pmid:32066831