Results 171 to 180 of about 5,948 (206)

Potassium channel dysfunction and depolarized resting membrane potential in a cell model of SCA3

Experimental Neurology, 2006
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant inherited neurodegenerative disease caused by the expansion of a polyglutamine repeat within the disease protein, ataxin-3.
Monika Jeub, Martin Herbst, Thomas Klockgether   +2 more
exaly   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

Pathophysiology of SCA3

2001
Once thought to be rare, spinocerebellar ataxia type 3 (SCA3) is now believed to be the most common dominantly inherited ataxia. Of the polyglutamine disorders described to date, SCA3 has perhaps the most interesting history—one that reflects past confusion about the clinical spectrum of this remarkably pleiotropic disease.
Puneet Opal, Henry Paulson
openaire   +1 more source

White matter damage is related to ataxia severity in SCA3

Journal of Neurology, 2013
Spinocerebellar ataxia type 3 (SCA3) is the most frequent inherited cerebellar ataxia in Europe, the US and Japan, leading to disability and death through motor complications. Although the affected protein ataxin-3 is found ubiquitously in the brain, grey matter atrophy is predominant in the cerebellum and the brainstem.
J-S, Kang, J C, Klein, S, Baudrexel, R, Deichmann, D, Nolte, R, Hilker   +5 more
openaire   +2 more sources

Survival estimates for patients with Machado–Joseph disease (SCA3)

Clinical Genetics, 2007
Machado–Joseph disease (MJD), one of the most prevalent autosomal dominant cerebellar ataxias, is a neurodegenerative disease that starts during adulthood, with patients showing difficulties in gait, later becoming bedridden, and ultimately presenting premature death. There is, however, scarce data quantifying disease impact on patient survival.
C, Kieling, P R, Prestes, M L, Saraiva-Pereira, L B, Jardim   +3 more
openaire   +2 more sources

PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study

Journal of Neurology, 2020
International audienceIn view of upcoming clinical trials, quantitative molecular markers accessible in peripheral blood are of critical importance as prognostic or pharmacodynamic markers in genetic neurodegenerative diseases such as Spinocerebellar ...
Thomas Klockgether, Sylvie Forlani, Alexandra Dürr   +2 more
exaly   +2 more sources

Safety and efficacy of valproic acid treatment in SCA3/MJD patients

Parkinsonism & Related Disorders, 2016
Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is one of 10 known polyglutamine (polyQ) diseases. In Drosophila and rat models of polyQ diseases, histone deacetylation (HDAC) inhibitors improved locomotor function and survival time by increasing histone acetylation levels and modulating gene expression.
Li-Fang, Lei, Guo-Ping, Yang, Jun-Ling, Wang, De-Maw, Chuang, Wei-Hong, Song, Bei-Sha, Tang, Hong, Jiang   +6 more
openaire   +2 more sources

Tract-specific spinal damage in SCA2, SCA3 and SCA6

Arquivos de Neuro-Psiquiatria
Background: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by progressive ataxia. Objective: To characterize spinal cord abnormalities in patients with SCA2, SCA3, and SCA6 and identify their phenotypic correlates.
Fabrício Castro de Borba, Joyce Macedo Sanches Fernandes, Thiago Junqueira Ribeiro de Rezende, Carelis González-Salazar, Lucas de Melo Teixeira Branco, Paulo Schneider Wolmer, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Marcondes Cavalcante França Junior   +8 more
openaire   +2 more sources

SCA2 and SCA3 mutations in young‐onset dopa‐responsive parkinsonism

European Journal of Neurology, 2003
In this study no one of our 85 patients of Serbian origin with young‐onset (≤ 45 years) dopa‐responsive parkinsonism (YOP), previously proved negative for PARK1 and PARK2 mutations, had either spinocerebellar ataxia type 2 (SCA2) or SCA3 mutation.
M, Svetel, A, Djarmati, N, Dragasević, D, Savić, B, Culjković, S, Romac, V S, Kostić   +6 more
openaire   +2 more sources

Structural signature of SCA3: From presymptomatic to late disease stages

Annals of Neurology, 2018
ObjectiveMachado–Joseph disease (SCA3/MJD) is the most frequent spinocerebellar ataxia worldwide and characterized by brainstem, basal ganglia, and cerebellar damage. However, little is known about the natural history of the disease. This motivated us to determine the extension and progression of central nervous system involvement in SCA3/MJD using ...
Thiago Junqueira Ribeiro, Rezende, Jean Levi Ribeiro, de Paiva, Alberto Rolim Muro, Martinez, Iscia, Lopes-Cendes, José Luiz, Pedroso, Orlando Graziani Povoas, Barsottini, Fernando, Cendes, Marcondes C, França   +7 more
openaire   +2 more sources

A neurological examination score for the assessment of spinocerebellar ataxia 3 (SCA3)

European Journal of Neurology, 2008
Spinocerebellar ataxias (SCAs) are characterized by a heterogeneous set of clinical manifestations. Our aims were to assess the neurological features of SCA3, and to describe and test the feasibility, reliability, and validity of a comprehensive Neurological Examination Score for Spinocerebellar Ataxia (NESSCA).
C, Kieling, C R M, Rieder, A C F, Silva, J A M, Saute, C R, Cecchin, T L, Monte, L B, Jardim   +6 more
openaire   +2 more sources