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Genotype-phenotype correlation in 667 Chinese families with spinocerebellar ataxia type 3.
Du YC, Dong Y, Cheng HL, Li QF, Yang L, Shao YR, Ma Y, Ni W, Gan SR, Wu ZY. Du YC, et al. Parkinsonism Relat Disord. 2020 Sep;78:116-121. doi: 10.1016/j.parkreldis.2020.07.024. Epub 2020 Aug 4. Parkinsonism Relat Disord. 2020. PMID: 32814229
INTRODUCTION: Due to diverse symptoms of spinocerebellar ataxia type 3 (SCA3) and the high prevalence of SCA3 in China, a more in-depth study of Chinese SCA3 patients in a large cohort is well merited. ...Limb ataxia and pyramidal impairment occurred less in patients with …
INTRODUCTION: Due to diverse symptoms of spinocerebellar ataxia type 3 (SCA3) and the high prevalence of SCA3 in China, a more in-dep …
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.
Rivaud-Pechoux S, Dürr A, Gaymard B, Cancel G, Ploner CJ, Agid Y, Brice A, Pierrot-Deseilligny C. Rivaud-Pechoux S, et al. Ann Neurol. 1998 Mar;43(3):297-302. doi: 10.1002/ana.410430306. Ann Neurol. 1998. PMID: 9506545 Review.
We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) …
We compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients …
Spermidine treatment: induction of autophagy but also apoptosis?
Watchon M, Wright AL, Ahel HI, Robinson KJ, Plenderleith SK, Kuriakose A, Yuan KC, Laird AS. Watchon M, et al. Mol Brain. 2024 Mar 5;17(1):15. doi: 10.1186/s13041-024-01085-7. Mol Brain. 2024. PMID: 38443995 Free PMC article.
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is a fatal neurodegenerative disease that causes loss of balance and motor co-ordination, eventually leading to paralysis. ...Interestingly, we found that in addition to …
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is a fatal neurodegenerative disea …
Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families.
Teive HA, Munhoz RP, Arruda WO, Lopes-Cendes I, Raskin S, Werneck LC, Ashizawa T. Teive HA, et al. Clinics (Sao Paulo). 2012;67(5):443-9. doi: 10.6061/clinics/2012(05)07. Clinics (Sao Paulo). 2012. PMID: 22666787 Free PMC article.
METHODS: We studied 150 patients from 104 families with spinocerebellar ataxias who had received molecular genetic testing for spinocerebellar ataxia types 1, 2, 3, 6, 7, 8, 10, 12, 17, and dentatorubral-pallidoluysian atrophy. ...Moreover, the comparison between patients …
METHODS: We studied 150 patients from 104 families with spinocerebellar ataxias who had received molecular genetic testing for spinocerebell …
Nerve growth factor for the treatment of spinocerebellar ataxia type 3: an open-label study.
Tan S, Wang RH, Niu HX, Shi CH, Mao CY, Zhang R, Song B, Sun SL, Liu XJ, Hou HM, Liu YT, Gao Y, Fang H, Kong XD, Xu YM. Tan S, et al. Chin Med J (Engl). 2015 Feb 5;128(3):291-4. doi: 10.4103/0366-6999.150087. Chin Med J (Engl). 2015. PMID: 25635421 Free PMC article.
BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of SCA worldwide, and runs a slowly progressive and unremitting disease course. ...RESULTS: Twenty-one SCA3 patients (10 men and 11 women, mean age 39.14 7.81 years, mean disease dura …
BACKGROUND: Spinocerebellar ataxia type 3 (SCA3) is the most common subtype of SCA worldwide, and runs a slowly progressive and unrem …
Chronic treatment with 17-DMAG improves balance and coordination in a new mouse model of Machado-Joseph disease.
Silva-Fernandes A, Duarte-Silva S, Neves-Carvalho A, Amorim M, Soares-Cunha C, Oliveira P, Thirstrup K, Teixeira-Castro A, Maciel P. Silva-Fernandes A, et al. Neurotherapeutics. 2014 Apr;11(2):433-49. doi: 10.1007/s13311-013-0255-9. Neurotherapeutics. 2014. PMID: 24477711 Free PMC article.
Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease currently with no treatment. ...Our data validate this novel mouse model as a relevant tool for the study of MJD pathogenesis and for pre-clinica …
Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease curre …
Treatment with Caffeic Acid and Resveratrol Alleviates Oxidative Stress Induced Neurotoxicity in Cell and Drosophila Models of Spinocerebellar Ataxia Type3.
Wu YL, Chang JC, Lin WY, Li CC, Hsieh M, Chen HW, Wang TS, Liu CS, Liu KL. Wu YL, et al. Sci Rep. 2017 Sep 14;7(1):11641. doi: 10.1038/s41598-017-11839-0. Sci Rep. 2017. PMID: 28912527 Free PMC article.
Spinocerebellar ataxia type 3 (SCA3) is caused by the expansion of a polyglutamine (polyQ) repeat in the protein ataxin-3 which is involved in susceptibility to mild oxidative stress induced neuronal death. ...
Spinocerebellar ataxia type 3 (SCA3) is caused by the expansion of a polyglutamine (polyQ) repeat in the protein ataxin-3 which is in …
Targeting Ubiquitin Proteasome Pathway with Traditional Chinese Medicine for Treatment of Spinocerebellar Ataxia Type 3.
Chen IC, Chang CN, Chen WL, Lin TH, Chao CY, Lin CH, Lin HY, Cheng ML, Chiang MC, Lin JY, Wu YR, Lee-Chen GJ, Chen CM. Chen IC, et al. Am J Chin Med. 2019;47(1):63-95. doi: 10.1142/S0192415X19500046. Epub 2019 Jan 7. Am J Chin Med. 2019. PMID: 30612452
Accumulation of aggregated mutant proteins is a common feature of polyQ diseases, leading to progressive neuronal dysfunction and degeneration. SCA type 3 (SCA3), the most common form of SCA worldwide, is characterized by a CAG triplet expansion in chromosome 14q32.1 …
Accumulation of aggregated mutant proteins is a common feature of polyQ diseases, leading to progressive neuronal dysfunction and degenerati …