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Quoted phrase not found in phrase index: "Spinocerebellar ataxia 45"
Page 1
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
Tan D, Wei C, Chen Z, Huang Y, Deng J, Li J, Liu Y, Bao X, Xu J, Hu Z, Wang S, Fan Y, Jiang Y, Wu Y, Wu Y, Wang S, Liu P, Zhang Y, Yang Z, Jiang Y, Zhang H, Hong D, Zhong N, Jiang H, Xiong H. Tan D, et al. Mov Disord. 2023 Jul;38(7):1282-1293. doi: 10.1002/mds.29412. Epub 2023 May 6. Mov Disord. 2023. PMID: 37148549
BACKGROUND: More than 50 loci are associated with spinocerebellar ataxia (SCA), and the most frequent subtypes share nucleotide repeats expansion, especially CAG expansion. ...RESULTS: We identified THAP11 as the novel causative SCA gene with CAG repeats ranging fro …
BACKGROUND: More than 50 loci are associated with spinocerebellar ataxia (SCA), and the most frequent subtypes share nucleotid …
Spinocerebellar ataxia type 31: A clinical and radiological literature review.
Saucier J, Al-Qadi M, Amor MB, Ishikawa K, Chamard-Witkowski L. Saucier J, et al. J Neurol Sci. 2023 Jan 15;444:120527. doi: 10.1016/j.jns.2022.120527. Epub 2022 Dec 16. J Neurol Sci. 2023. PMID: 36563608 Free article. Review.
Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (ADCA type 3). ...Extracerebellar signs were observed in 52.5% of patients, primarily consisting of dysreflexia, vibratory hypoesthesia …
Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant disease, classified amongst pure cerebellar ataxias (AD …
Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene.
Gazulla J, Bellosta-Diago E, Izquierdo-Alvarez S, Berciano J. Gazulla J, et al. Eur J Neurol. 2023 Aug;30(8):2539-2543. doi: 10.1111/ene.15840. Epub 2023 May 19. Eur J Neurol. 2023. PMID: 37154409
BACKGROUND AND PURPOSE: Spinocerebellar ataxia type 15 (SCA15) is a degenerative, adult onset autosomal dominant cerebellar ataxia, caused almost exclusively by deletions in the inositol 1,4,5 triphosphate receptor type 1 (ITPR1) gene (ITPR1). ...The main cli …
BACKGROUND AND PURPOSE: Spinocerebellar ataxia type 15 (SCA15) is a degenerative, adult onset autosomal dominant cerebellar …
Inositol 1,4,5-trisphosphate receptors and neurodegenerative disorders.
Egorova PA, Bezprozvanny IB. Egorova PA, et al. FEBS J. 2018 Oct;285(19):3547-3565. doi: 10.1111/febs.14366. Epub 2018 Jan 12. FEBS J. 2018. PMID: 29253316 Free article. Review.
Dysfunction of IP(3) R type 1 may play a role in the pathogenesis of certain neurodegenerative diseases as enhanced activity of the IP(3) R was observed in models of Huntington's disease, spinocerebellar ataxias and Alzheimer's disease. ...
Dysfunction of IP(3) R type 1 may play a role in the pathogenesis of certain neurodegenerative diseases as enhanced activity of the IP(3) R …
Dystonia and ataxia progression in spinocerebellar ataxias.
Kuo PH, Gan SR, Wang J, Lo RY, Figueroa KP, Tomishon D, Pulst SM, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Shakkottai VG, Ying SH, Zesiewicz T, Bushara K, Geschwind MD, Xia G, Subramony SH, Ashizawa T, Kuo SH. Kuo PH, et al. Parkinsonism Relat Disord. 2017 Dec;45:75-80. doi: 10.1016/j.parkreldis.2017.10.007. Epub 2017 Oct 23. Parkinsonism Relat Disord. 2017. PMID: 29089256 Free PMC article.
BACKGROUND: Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known. OBJECTIVES: To study clinical characteristics and ataxia progression in S …
BACKGROUND: Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated wit …
Systematic assessment of plasma biomarkers in spinocerebellar ataxia.
Shen XN, Wu KM, Huang YY, Guo Y, Huang SY, Zhang YR, Chen SF, Wang HF, Zhang W, Cheng W, Cui M, Dong Q, Yu JT. Shen XN, et al. Neurobiol Dis. 2023 Jun 1;181:106112. doi: 10.1016/j.nbd.2023.106112. Epub 2023 Mar 30. Neurobiol Dis. 2023. PMID: 37003406 Free article.
BACKGROUND AND OBJECTIVES: Plasma neurofilament light (NfL), glial fibrillary acidic protein (GFAP), phosphorylated-tau (p-tau), and beta-amyloid (Abeta) have emerged as promising markers in several neurodegenerative disorders, but whether they can be used as biomarkers in spi …
BACKGROUND AND OBJECTIVES: Plasma neurofilament light (NfL), glial fibrillary acidic protein (GFAP), phosphorylated-tau (p-tau), and beta-am …
Composite autonomic severity scoring in spinocerebellar ataxia type 1 and 2.
Tamuli D, Kaur M, Jaryal AK, Srivastava AK, Deepak KK. Tamuli D, et al. J Clin Neurosci. 2023 Jul;113:114-120. doi: 10.1016/j.jocn.2023.05.019. Epub 2023 May 30. J Clin Neurosci. 2023. PMID: 37257217
OBJECTIVES: The aim of the present study was to evaluate the integrity of autonomic nervous system in spinocerebellar ataxia (SCA) type 1 and 2 patients using battery of autonomic function tests and their comprehensive scoring using composite autonomic severity s …
OBJECTIVES: The aim of the present study was to evaluate the integrity of autonomic nervous system in spinocerebellar ataxia ( …
Baseline Clinical and Blood Biomarkers in Patients With Preataxic and Early-Stage Disease Spinocerebellar Ataxia 1 and 3.
Tezenas du Montcel S, Petit E, Olubajo T, Faber J, Lallemant-Dudek P, Bushara K, Perlman S, Subramony SH, Morgan D, Jackman B, Paulson HL, Öz G, Klockgether T, Durr A, Ashizawa T; READISCA Consortium Collaborators. Tezenas du Montcel S, et al. Neurology. 2023 Apr 25;100(17):e1836-e1848. doi: 10.1212/WNL.0000000000207088. Epub 2023 Feb 16. Neurology. 2023. PMID: 36797067 Free PMC article.
BACKGROUND AND OBJECTIVES: In spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cerebellar and/or brainstem alterations, or biomarker modifications. READISCA is a prospective, longitudinal observational study of patie …
BACKGROUND AND OBJECTIVES: In spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cere …
Anxiety and depression in spinocerebellar ataxia patients during the COVID-19 pandemic in China: A cross-sectional study.
Gong Y, Chen Z, Liu M, Wan L, Wang C, Peng H, Shi Y, Peng Y, Xia K, Qiu R, Tang B, Jiang H. Gong Y, et al. J Clin Neurosci. 2021 Jun;88:39-46. doi: 10.1016/j.jocn.2021.03.004. Epub 2021 Mar 30. J Clin Neurosci. 2021. PMID: 33992201 Free PMC article.
Our purpose was to evaluate the anxiety and depression in spinocerebellar ataxia (SCA) patients during the pandemic and to analyse the influencing factors. ...The relevant factors included COVID-19 risk factors, age, sex, body mass index (BMI), educational backgroun …
Our purpose was to evaluate the anxiety and depression in spinocerebellar ataxia (SCA) patients during the pandemic and to ana …
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.
Participants were patients with spinocerebellar ataxia type 2 with an age at disease onset of up to 50 years and a scale for the assessment and rating of ataxia (SARA) score of at least 5 and up to 26. ...The number of patients with adverse events was …
Participants were patients with spinocerebellar ataxia type 2 with an age at disease onset of up to 50 years and a scale for t …
104 results