SCA8 ATXN8OS

Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.

Haibao,Tang, Ewen F,Kirkness, Christoph,Lippert, William H,Biggs, Martin,Fabani, Ernesto,Guzman, Smriti,Ramakrishnan, Victor,Lavrenko, Boyko,Kakaradov, Claire,Hou, Barry,Hicks, David,Heckerman, Franz J,Och, C Thomas,Caskey, J Craig,Venter, Amalio,Telenti

John Douglas,Cleary, S. H.,Subramony, Laura PW,Ranum

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

Haloom,Rafehi, Liam G.,Fearnley, Justin,Read, Penny,Snell, Kayli C.,Davies, Liam,Scott, Greta,Gillies, Genevieve C.,Thompson, Tess A.,Field, Aleena,Eldo, Simon,Bodek, Ernest,Butler, Luke,Chen, John,Drago, Himanshu,Goel, Anna,Hackett, G. Michael,Halmagyi, Andrew,Hannaford, Katya,Kotschet, Kishore R.,Kumar, Smitha,Kumble, Matthew,Lee-Archer, Abhishek,Malhotra, Mark,Paine, Michael,Poon, Kate,Pope, Katrina,Reardon, Steven,Ring, Anne,Ronan, Matthew,Silsby, Renee,Smyth, Chloe,Stutterd, Mathew,Wallis, John,Waterston, Thomas,Wellings, Kirsty,West, Christine,Wools, Kathy H.C.,Wu, David J.,Szmulewicz, Martin B.,Delatycki, Melanie,Bahlo, Paul J.,Lockhart

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

Melinda L,Moseley, Tao,Zu, Yoshio,Ikeda, Wangcai,Gao, Anne K,Mosemiller, Randy S,Daughters, Gang,Chen, Marcy R,Weatherspoon, H Brent,Clark, Timothy J,Ebner, John W,Day, Laura P W,Ranum

RNA-mediated neurodegeneration in repeat expansion disorders.

SCA8 should not be tested in isolation for ataxia.

Ricardo H,Roda, Alice B,Schindler, Craig,Blackstone

CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.

Barbara A,Perez, Hannah K,Shorrock, Monica,Banez-Coronel, Tao,Zu, Lisa El,Romano, Lauren A,Laboissonniere, Tammy,Reid, Yoshio,Ikeda, Kaalak,Reddy, Christopher M,Gomez, Thomas,Bird, Tetsuo,Ashizawa, Lawrence J,Schut, Alfredo,Brusco, J Andrew,Berglund, Lis F,Hasholt, Jorgen E,Nielsen, S H,Subramony, Laura Pw,Ranum

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8).

M D,Koob, M L,Moseley, L J,Schut, K A,Benzow, T D,Bird, J W,Day, L P,Ranum

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

Targeted Long-Read Sequencing as a Single Assay Improves the Diagnosis of Spastic-Ataxia Disorders.

Laura Ivete,Rudaks, Igor,Stevanovski, Dennis,Yeow, Andre L M,Reis, Sanjog R,Chintalaphani, Pak Leng,Cheong, Hasindu,Gamaarachchi, Lisa,Worgan, Kate,Ahmad, Michael,Hayes, Andrew,Hannaford, Samuel,Kim, Victor S C,Fung, Gabor M,Halmagyi, Andrew,Martin, David,Manser, Michel,Tchan, Karl,Ng, Marina L,Kennerson, Ira W,Deveson, Kishore Raj,Kumar

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

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

The Cerebellar Cognitive Affective/Schmahmann Syndrome Scale in Spinocerebellar Ataxias.

Louisa P,Selvadurai, Susan L,Perlman, Tetsuo,Ashizawa, George R,Wilmot, Chiadi U,Onyike, Liana S,Rosenthal, Vikram G,Shakkottai, Henry L,Paulson, Sub H,Subramony, Khalaf O,Bushara, Sheng-Han,Kuo, Cameron,Dietiker, Michael D,Geschwind, Alexandra B,Nelson, Christopher M,Gomez, Puneet,Opal, Theresa A,Zesiewicz, Trevor,Hawkins, Talene A,Yacoubian, Peggy C,Nopoulos, Sharon J,Sha, Peter E,Morrison, Karla P,Figueroa, Stefan M,Pulst, Jeremy D,Schmahmann

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

The Frequency of Intermediate Alleles in Patients with Cerebellar Phenotypes.

Elena,Capacci, Silvia,Bagnoli, Giulia,Giacomucci, Costanza Maria,Rapillo, Alessandra,Govoni, Valentina,Bessi, Cristina,Polito, Irene,Giotti, Alice,Brogi, Elisabetta,Pelo, Sandro,Sorbi, Benedetta,Nacmias, Camilla,Ferrari

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

Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.

Lyndal,Henden, Liam G,Fearnley, Natalie,Grima, Emily P,McCann, Carol,Dobson-Stone, Lauren,Fitzpatrick, Kathryn,Friend, Lynne,Hobson, Sandrine,Chan Moi Fat, Dominic B,Rowe, Susan,D'Silva, John B,Kwok, Glenda M,Halliday, Matthew C,Kiernan, Srestha,Mazumder, Hannah C,Timmins, Margaret,Zoing, Roger,Pamphlett, Lorel,Adams, Melanie,Bahlo, Ian P,Blair, Kelly L,Williams