Results 141 to 150 of about 4,926 (176)

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

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

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

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

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

[Diffusion weighted imaging of SCA3/MJD and SPG4].

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 2015
To determine the value of diffusion weighted imaging (DWI) in the diagnosis of hereditary spinocerebellar ataxia 3 and the Machado Joseph disease (SCA3/MJD) and hereditary spastic paraplegia 4 (SPG4).We scanned 13 patients with SPG4, 30 patients with SCA3/MJD (21 onset patients and 9 with only genetic abnormalities), and 27 healthy volunteers with DWI.
Wu, Xing, Xiaoyi, Wang, Xinxin, Liao, Lu, Shen, Weihua, Liao   +4 more
openaire   +1 more source

Mitochondria-associated apoptosis in the pathogenesis of SCA3

Aktuelle Neurologie, 2008
J Hübener, H Wolburg, Y Ye, F Gellerich, T Schmidt, H Nguyen, O Riess   +6 more
openaire   +1 more source

SCA3, Machado-Joseph Disease

2018
Giovanni Stevanin, Sandro Alves, Alexandra Durr   +2 more
openaire   +1 more source