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2002 1
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2007 1
2010 1
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2019 3
2022 3
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Genome-wide CRISPR screen reveals v-ATPase as a drug target to lower levels of ALS protein ataxin-2.
Kim G, Nakayama L, Blum JA, Akiyama T, Boeynaems S, Chakraborty M, Couthouis J, Tassoni-Tsuchida E, Rodriguez CM, Bassik MC, Gitler AD. Kim G, et al. Cell Rep. 2022 Oct 25;41(4):111508. doi: 10.1016/j.celrep.2022.111508. Cell Rep. 2022. PMID: 36288714 Free PMC article.
Mutations in the ataxin-2 gene (ATXN2) cause the neurodegenerative disorders amyotrophic lateral sclerosis (ALS) and spinocerebellar ataxia type 2 (SCA2). A therapeutic strategy using antisense oligonucleotides targeting ATXN2 has entered clinical …
Mutations in the ataxin-2 gene (ATXN2) cause the neurodegenerative disorders amyotrophic lateral sclerosis (ALS) and spinocerebellar …
Molecular Mechanisms and Therapeutics for Spinocerebellar Ataxia Type 2.
Egorova PA, Bezprozvanny IB. Egorova PA, et al. Neurotherapeutics. 2019 Oct;16(4):1050-1073. doi: 10.1007/s13311-019-00777-6. Neurotherapeutics. 2019. PMID: 31435879 Free PMC article. Review.
The effective therapeutic treatment and the disease-modifying therapy for spinocerebellar ataxia type 2 (SCA2) (a progressive hereditary disease caused by an expansion of polyglutamine in the ataxin-2 protein) is not available yet. ...
The effective therapeutic treatment and the disease-modifying therapy for spinocerebellar ataxia type 2 (SCA2) ( …
Oligonucleotide therapeutics in neurodegenerative diseases.
Scoles DR, Pulst SM. Scoles DR, et al. RNA Biol. 2018;15(6):707-714. doi: 10.1080/15476286.2018.1454812. Epub 2018 Jun 1. RNA Biol. 2018. PMID: 29560813 Free PMC article. Review.
We have used an ASO approach toward developing a treatment for spinocerebellar ataxia type 2 (SCA2), for targeting the causative gene ATXN2. ...
We have used an ASO approach toward developing a treatment for spinocerebellar ataxia type 2 (SCA2), for targeti …
Erythropoietin in Spinocerebellar Ataxia Type 2: Feasibility and Proof-of-Principle Issues from a Randomized Controlled Study.
Rodriguez-Labrada R, Ortega-Sanchez R, Hernández Casaña P, Santos Morales O, Padrón-Estupiñan MDC, Batista-Nuñez M, Jiménez Rodríguez D, Canales-Ochoa N, Peña Acosta A, Medrano Montero J, Labrada Aguilera PE, Estupiñán Rodriguez A, Vazquez-Mojena Y, Almaguer Gotay D, Aymed-García J, García-García I, Torres Vega R, Viada González C, Valenzuela Silva CM, Silva Ricardo Y, Columbié Ximelis J, Tribin Rivero K, Valle Cabrera R, García-Rodriguez JC, Crombet Ramos T, Amaro-González D, Rodriguez-Obaya T, Velázquez-Pérez L. Rodriguez-Labrada R, et al. Mov Disord. 2022 Jul;37(7):1516-1525. doi: 10.1002/mds.29045. Epub 2022 May 23. Mov Disord. 2022. PMID: 35607776 Clinical Trial.
BACKGROUND: Several pieces of evidence have shown the neurotrophic effect of erythropoietin (EPO) and its introduction in the therapeutic practice of neurological diseases. However, its usefulness in the treatment of spinocerebellar ataxia type 2 (SCA2 …
BACKGROUND: Several pieces of evidence have shown the neurotrophic effect of erythropoietin (EPO) and its introduction in the therapeutic pr …
Antisense oligonucleotide therapy for spinocerebellar ataxia type 2.
Scoles DR, Meera P, Schneider MD, Paul S, Dansithong W, Figueroa KP, Hung G, Rigo F, Bennett CF, Otis TS, Pulst SM. Scoles DR, et al. Nature. 2017 Apr 20;544(7650):362-366. doi: 10.1038/nature22044. Epub 2017 Apr 12. Nature. 2017. PMID: 28405024 Free PMC article.
Here we test RNA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal dominant polyglutamine disease. ...
Here we test RNA-targeted therapies in two mouse models of spinocerebellar ataxia type 2 (SCA2), an autosomal do …
Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24-week, rater-blinded, randomized, controlled trial.
Rodríguez-Díaz JC, Velázquez-Pérez L, Rodríguez Labrada R, Aguilera Rodríguez R, Laffita Pérez D, Canales Ochoa N, Medrano Montero J, Estupiñán Rodríguez A, Osorio Borjas M, Góngora Marrero M, Reynaldo Cejas L, González Zaldivar Y, Almaguer Gotay D. Rodríguez-Díaz JC, et al. Mov Disord. 2018 Sep;33(9):1481-1487. doi: 10.1002/mds.27437. Epub 2018 Aug 22. Mov Disord. 2018. PMID: 30132999 Clinical Trial.
BACKGROUND: Neurorehabilitation has become in a widely used approach in spinocerebellar ataxias, but there are scarce powerful clinical studies supporting this notion. OBJECTIVE: The objective of this study was to assess the efficacy of a 24-week neurorehabilitative treatm …
BACKGROUND: Neurorehabilitation has become in a widely used approach in spinocerebellar ataxias, but there are scarce powerful clinical …
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial.
Coarelli G, Heinzmann A, Ewenczyk C, Fischer C, Chupin M, Monin ML, Hurmic H, Calvas F, Calvas P, Goizet C, Thobois S, Anheim M, Nguyen K, Devos D, Verny C, Ricigliano VAG, Mangin JF, Brice A, Tezenas du Montcel S, Durr A. Coarelli G, et al. Lancet Neurol. 2022 Mar;21(3):225-233. doi: 10.1016/S1474-4422(21)00457-9. Epub 2022 Jan 18. Lancet Neurol. 2022. PMID: 35063116 Clinical Trial.
INTERPRETATION: We were able to recruit 45 patients moderately affected by spinocerebellar ataxia type 2 for this trial. Riluzole did not improve clinical or radiological outcomes in these patients. However, our findings provide data on p …
INTERPRETATION: We were able to recruit 45 patients moderately affected by spinocerebellar ataxia type 2 for thi …
Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials.
Rodríguez-Labrada R, Velázquez-Pérez L, Auburger G, Ziemann U, Canales-Ochoa N, Medrano-Montero J, Vázquez-Mojena Y, González-Zaldivar Y. Rodríguez-Labrada R, et al. Mov Disord. 2016 Apr;31(4):570-8. doi: 10.1002/mds.26532. Epub 2016 Feb 5. Mov Disord. 2016. PMID: 26846400
BACKGROUND: Saccadic eye movement abnormalities are common in patients with spinocerebellar ataxia type 2, but it is unclear how these alterations progress over time. The aim of this study was to assess the progression of saccade involvement in spin …
BACKGROUND: Saccadic eye movement abnormalities are common in patients with spinocerebellar ataxia type 2, but i …
Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).
Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, Singleton A, Bower J, Utti RJ, Bird TD, de la Fuente-Fernandez R, Tsuboi Y, Klimek ML, Suchowersky O, Hardy J, Calne DB, Wszolek ZK, Farrer M, Gwinn-Hardy K, Stoessl AJ. Furtado S, et al. Mov Disord. 2004 Jun;19(6):622-9. doi: 10.1002/mds.20074. Mov Disord. 2004. PMID: 15197699 Review.
Spinocerebellar ataxia type 2 (SCA2) has been recognized recently as an uncommon cause of parkinsonism, an alternate presentation to the typical cerebellar disorder. This research review summarizes the existing literature on parkinsonism-predominant pr …
Spinocerebellar ataxia type 2 (SCA2) has been recognized recently as an uncommon cause of parkinsonism, an alter …
Thiamine and spinocerebellar ataxia type 2.
Costantini A, Pala MI, Colangeli M, Savelli S. Costantini A, et al. BMJ Case Rep. 2013 Jan 10;2013:bcr2012007302. doi: 10.1136/bcr-2012-007302. BMJ Case Rep. 2013. PMID: 23314445 Free PMC article.
Spinocerebellar ataxia type 2 is a genetic disorder characterised by the degeneration of the cerebellum, its connections and degeneration in brainstem areas. ...
Spinocerebellar ataxia type 2 is a genetic disorder characterised by the degeneration of the cerebellum, its con …
26 results