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Quoted phrase not found in phrase index: "Machado-Joseph disease type 2"
Page 1
Planning Future Clinical Trials for Machado-Joseph Disease.
Saute JAM, Jardim LB. Saute JAM, et al. Adv Exp Med Biol. 2018;1049:321-348. doi: 10.1007/978-3-319-71779-1_17. Adv Exp Med Biol. 2018. PMID: 29427112 Review.
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant multiple neurological systems degenerative disorder caused by a CAG repeat expansion at ATXN3 gene. ...Ataxia quantitative scales or its composite scores ca …
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant multiple neurological s …
Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease.
Miranda CO, Nobre RJ, Paiva VH, Duarte JV, Castelhano J, Petrella LI, Sereno J, Santana M, Afonso S, Januário C, Castelo-Branco M, de Almeida LP. Miranda CO, et al. Acta Neuropathol Commun. 2022 Mar 19;10(1):37. doi: 10.1186/s40478-022-01329-4. Acta Neuropathol Commun. 2022. PMID: 35305685 Free PMC article.
Machado-Joseph disease (MJD) or Spinocerebellar ataxia type 3 (SCA3) is the most common form of dominant SCA worldwide. ...Lower neurochemical ratios levels (NAA/Ins and NAA/total Choline), previously correlated with worse clinical status in SCAs, were …
Machado-Joseph disease (MJD) or Spinocerebellar ataxia type 3 (SCA3) is the most common form of dominant SCA wor …
Olfactory Function in SCA10.
Moscovich M, Munhoz RP, Moro A, Raskin S, McFarland K, Ashizawa T, Teive HAG, Silveira-Moriyama L. Moscovich M, et al. Cerebellum. 2019 Feb;18(1):85-90. doi: 10.1007/s12311-018-0954-1. Cerebellum. 2019. PMID: 29922950 Free PMC article.
Mean SS16 score was 11.9 2.9 for the SCA10 group, 12.3 1.9 for the SCA3 group, 6.6 2.8 for the PD group, and 12.1 2.0 for the control group. ...There was no association between SS16 scores and disease duration in the SCA10 or SCA3 groups …
Mean SS16 score was 11.9 2.9 for the SCA10 group, 12.3 1.9 for the SCA3 group, 6.6 2.8 for the PD group, and 12.1 2 …
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 patients with spinocerebel …
BACKGROUND AND OBJECTIVES: In spinocerebellar ataxia, ataxia onset can be preceded by mild clinical manifestation, cerebellar and/or brainst …
Synaptic Loss in Spinocerebellar Ataxia Type 3 Revealed by SV2A Positron Emission Tomography.
Chen Z, Liao G, Wan N, He Z, Chen D, Tang Z, Long Z, Zou G, Peng L, Wan L, Wang C, Peng H, Shi Y, Tang Y, Li J, Li Y, Long T, Hou X, He L, Qiu R, Chen D, Wang J, Guo J, Shen L, Huang Y, Ashizawa T, Klockgether T, Tang B, Zhou M, Hu S, Jiang H. Chen Z, et al. Mov Disord. 2023 Jun;38(6):978-989. doi: 10.1002/mds.29395. Epub 2023 Apr 6. Mov Disord. 2023. PMID: 37023261
OBJECTIVE SPINOCEREBELLAR ATAXIA TYPE 3: The objective of this study was to assess in vivo synaptic loss and its clinical correlates in spinocerebellar ataxia type 3 (SCA3) patients by synaptic vesicle glycoprotein 2A (SV2A)-positron emission tomography (PET) imagin …
OBJECTIVE SPINOCEREBELLAR ATAXIA TYPE 3: The objective of this study was to assess in vivo synaptic loss and its clinical correlates …
Spinocerebellar ataxia type 3/Machado-Joseph disease starting before adolescence.
Donis KC, Saute JA, Krum-Santos AC, Furtado GV, Mattos EP, Saraiva-Pereira ML, Torman VL, Jardim LB. Donis KC, et al. Neurogenetics. 2016 Apr;17(2):107-13. doi: 10.1007/s10048-016-0473-5. Epub 2016 Jan 16. Neurogenetics. 2016. PMID: 26780339
Onset of Machado-Joseph disease (SCA3/MJD) before adolescence has been rarely reported. This study aims to describe a cohort of SCA3/MJD with onset before 12 years of age, comparing their disease progression with the progression observed in pati …
Onset of Machado-Joseph disease (SCA3/MJD) before adolescence has been rarely reported. This study aims to describe a c …
Cytokines in Machado Joseph Disease/Spinocerebellar Ataxia 3.
da Silva Carvalho G, Saute JA, Haas CB, Torrez VR, Brochier AW, Souza GN, Furtado GV, Gheno T, Russo A, Monte TL, Schumacher-Schuh A, D'Avila R, Donis KC, Castilhos RM, Souza DO, Saraiva-Pereira ML, Torman VL, Camey S, Portela LV, Jardim LB. da Silva Carvalho G, et al. Cerebellum. 2016 Aug;15(4):518-25. doi: 10.1007/s12311-015-0719-z. Cerebellum. 2016. PMID: 26395908
The aim of the present study is to describe the serum concentrations of a broad spectrum of cytokines in symptomatic and asymptomatic carriers of Machado Joseph disease (SCA3/MJD) CAG expansions. Molecularly confirmed carriers and controls were studied. Age a …
The aim of the present study is to describe the serum concentrations of a broad spectrum of cytokines in symptomatic and asymptomatic carrie …
Progression of Clinical and Eye Movement Markers in Preataxic Carriers of Machado-Joseph Disease.
de Oliveira CM, Leotti VB, Cappelli AH, Rocha AG, Ecco G, Bolzan G, Kersting N, Saraiva-Pereira ML, Jardim LB. de Oliveira CM, et al. Mov Disord. 2023 Jan;38(1):26-34. doi: 10.1002/mds.29226. Epub 2022 Sep 21. Mov Disord. 2023. PMID: 36129443

BACKGROUND: Little is known about preclinical stages of Machado-Joseph disease, a polyglutamine disorder characterized by progressive adult-onset ataxia. ...Preataxic carriers (Scale for Assessment and Rating of Ataxia score < 3) expected to start a

…
BACKGROUND: Little is known about preclinical stages of Machado-Joseph disease, a polyglutamine disorder characterized …
Altered retinal structure and function in Spinocerebellar ataxia type 3.
Toulis V, Casaroli-Marano R, Camós-Carreras A, Figueras-Roca M, Sánchez-Dalmau B, Muñoz E, Ashraf NS, Ferreira AF, Khan N, Marfany G, Costa MDC. Toulis V, et al. Neurobiol Dis. 2022 Aug;170:105774. doi: 10.1016/j.nbd.2022.105774. Epub 2022 May 21. Neurobiol Dis. 2022. PMID: 35605759 Free article.
We evaluated the retinal structure and function in five patients with SCA3 and in a transgenic mouse model of this disease (YACMJD84.2, Q84) using optical coherence tomography (OCT) and electroretinogram (ERG). ...Some patients with SCA3 in our cohort revealed: i) r …
We evaluated the retinal structure and function in five patients with SCA3 and in a transgenic mouse model of this disease (YACMJD84. …
Dystonia in Machado-Joseph disease: Clinical profile, therapy and anatomical basis.
Nunes MB, Martinez AR, Rezende TJ, Friedman JH, Lopes-Cendes I, D'Abreu A, França MC Jr. Nunes MB, et al. Parkinsonism Relat Disord. 2015 Dec;21(12):1441-7. doi: 10.1016/j.parkreldis.2015.10.016. Epub 2015 Oct 30. Parkinsonism Relat Disord. 2015. PMID: 26552869 Clinical Trial.
INTRODUCTION: Dystonia is frequent in Machado-Joseph disease, but several important aspects are not yet defined, such as the detailed clinical profile, response to treatment and anatomical substrate. ...Basal ganglia volume was reduced in both groups, but atr …
INTRODUCTION: Dystonia is frequent in Machado-Joseph disease, but several important aspects are not yet defined, such a …
107 results