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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 …
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 …
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.
Moreover, the comparison between patients with spinocerebellar ataxia 3, spinocerebellar ataxia 10, and other types of spinocerebellar ataxia revealed distinct clinical features for each type. In patients with spinocerebellar ataxia 3, the phenotype was highly pleomorphic, …
Moreover, the comparison between patients with spinocerebellar ataxia 3, spinocerebellar ataxia 10, and other types of spinocerebellar ataxi …
Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3.
Watchon M, Robinson KJ, Luu L, An Y, Yuan KC, Plenderleith SK, Cheng F, Don EK, Nicholson GA, Lee A, Laird AS. Watchon M, et al. FASEB J. 2024 Jan 31;38(2):e23429. doi: 10.1096/fj.202300963RR. FASEB J. 2024. PMID: 38258931
Spinocerebellar ataxia type 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disease caused by the expansion of the trinucleotide repeat region within the ATXN3/MJD gene. Mutation of ATXN3 causes formation of ataxin-3 …
Spinocerebellar ataxia type 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disea …
Broadening the therapeutic scope for rapamycin treatment.
Menzies FM, Rubinsztein DC. Menzies FM, et al. Autophagy. 2010 Feb;6(2):286-7. doi: 10.4161/auto.6.2.11078. Epub 2010 Mar 2. Autophagy. 2010. PMID: 20081360
As a result, autophagy upregulation has become an attractive therapeutic strategy for the treatment of proteinopathies, a group of diseases caused by the accumulation of mutant misfolded proteins. We have previously shown that rapamycin attenuates the phenotype in a mouse …
As a result, autophagy upregulation has become an attractive therapeutic strategy for the treatment of proteinopathies, a group of di …