Results 11 to 20 of about 8,951 (161)

Spinocerebellar Ataxia Type 2 Is Associated with the Extracellular Loss of Superoxide Dismutase but Not Catalase Activity

Frontiers in Neurology, 2017
BackgroundSpinocerebellar ataxia type 2 (SCA2) is an inherited and still incurable neurodegenerative disorder. Evidence suggests that pro-oxidant agents as well as factors involved in antioxidant cellular defenses are part of SCA2 physiopathology.AimTo ...
Dennis Almaguer-Gotay, Luis E. Almaguer-Mederos, Raul Aguilera-Rodríguez, Roberto Rodríguez-Labrada, Dany Cuello-Almarales, Annelié Estupiñán-Domínguez, Luis C. Velázquez-Pérez, Yanetza González-Zaldívar, Yaimé Vázquez-Mojena   +8 more
doaj   +1 more source

Sleep disorders in cerebellar ataxias

Arquivos de Neuro-Psiquiatria, 2011
Cerebellar ataxias comprise a wide range of etiologies leading to central nervous system-related motor and non-motor symptoms. Recently, a large body of evidence has demonstrated a high frequency of non-motor manifestations in cerebellar ataxias ...
José L. Pedroso, Pedro Braga-Neto, André C. Felício, Camila C.H. Aquino, Lucila B. Fernandes do Prado, Gilmar Fernandes do Prado, Orlando G.P. Barsottini   +6 more
doaj   +1 more source

Rehabilitation in patients with cerebellar ataxias

Arquivos de Neuro-Psiquiatria, 2022
Cerebellar ataxias comprise a heterogeneous group of diseases characterized by motor and non-motor symptoms, which can be acquired, degenerative, or have a genetic cause, such as spinocerebellar ataxias (SCA).
Hsin Fen Chien, Marise Bueno Zonta, Janini Chen, Giovana Diaferia, Celiana Figueiredo Viana, Hélio Afonso Ghizoni Teive, José Luiz Pedroso, Orlando Graziani Povoas Barsottini   +7 more
doaj   +1 more source

Motor and Cerebellar Architectural Abnormalities during the Early Progression of Ataxia in a Mouse Model of SCA1 and How Early Prevention Leads to a Better Outcome Later in Life

Frontiers in Cellular Neuroscience, 2017
Exposing developing cerebellar Purkinje neurons (PNs) to mutant Ataxin1 (ATXN1) in 82Q spinocerebellar ataxia type 1 (SCA1) mice disrupts motor behavior and cerebellar climbing fiber (CF) architecture from as early as 4 weeks of age.
Mohamed F. Ibrahim, Emmet M. Power, Kay Potapov, Ruth M. Empson   +3 more
doaj   +1 more source

Ataxia [PDF]

Continuum, 2019
This article reviews the symptoms, laboratory and neuroimaging diagnostic tests, genetics, and management of cerebellar ataxia.Recent advances in genetics have led to the identification of novel genetic causes for ataxia and a more comprehensive understanding of the biological pathways critical for normal cerebellar function.
openaire   +2 more sources

Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed

Arquivos de Neuro-Psiquiatria, 2013
Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs and retained or increased upper
Jose Luiz Pedroso, Pedro Braga-Neto, Irapua Ferreira Ricarte, Marcus Vinicius Cristino Albuquerque, Orlando Graziani Povoas Barsottini   +4 more
doaj   +1 more source

Zebrafish Models of Autosomal Recessive Ataxias

Cells, 2021
Autosomal recessive ataxias are much less well studied than autosomal dominant ataxias and there are no clearly defined systems to classify them.
Ana Quelle-Regaldie, Daniel Sobrido-Cameán, Antón Barreiro-Iglesias, María Jesús Sobrido, Laura Sánchez   +4 more
doaj   +1 more source

Friedreich Ataxia [PDF]

Journal of the Neurological Sciences, 2003
There has been rapid progress in the understanding of several aspects of Friedreich's ataxia (FA) since the gene mutation was identified in 1996. At the clinical level, now it is possible to confirm that the majority of patients fullfilling clinical criteria for classic FA have the FA gene mutation but some do not, indicating genetic heterogeneity ...
openaire   +4 more sources

Spinocerebellar ataxias Ataxias espinocerebelares

Arquivos de Neuro-Psiquiatria, 2009
Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders,
Hélio A.G. Teive
doaj   +1 more source

The Impact of Demographic and Clinical Factors on the Quality of Life in Patients with Neurodegenerative Cerebellar Ataxias

Brain Sciences, 2023
In neurodegenerative cerebellar ataxias, not only ataxia but also extra-cerebellar signs have a significant impact on patients’ health related to quality of life (HRQoL).
Olivera Tamaš, Gorica Marić, Milutin Kostić, Andona Milovanović, Katarina Đurđević, Biljana Salak Đokić, Elka Stefanova, Tatjana Pekmezović, Nataša Dragašević-Mišković   +8 more
doaj   +1 more source