Results 11 to 20 of about 9,291 (257)

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
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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

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

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

Dystonia and ataxia progression in spinocerebellar ataxias [PDF]

Parkinsonism & Related Disorders, 2017
Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known.To study clinical characteristics and ataxia progression in SCAs with and without dystonia.We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for ...
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA ( host institution ), Kuo, Pei-Hsin ( author ), Gan, Shi-Rui ( author ), Wang, Jie ( author ), Lo, Raymond Y. ( author ), Figueroa, Karla P. ( author ), Tomishon, Darya ( author ), Pulst, Stefan M. ( author ), Perlman, Susan ( author ), Wilmot, George ( author ), Gomez, Christopher M. ( author ), Schmahmann, Jeremy D. ( author ), Paulson, Henry ( author ), Shakkottai, Vikram G. ( author ), Ying, Sarah H. ( author ), Zesiewicz, Theresa ( author ), Bushara, Khalaf ( author ), Geschwind, Michael D. ( author ), Xia, Guangbin ( author ), Subramony, S.H. ( UF author ), Ashizawa, Tetsuo ( author ), Kuo, Sheng-Han ( author )   +21 more
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Ataxia Telangiectasia [PDF]

New England Journal of Medicine, 1970
The clinical history and pathological findings in a case of ataxia‐telangiectasia are reported.Clinically the case showed characteristic neurological manifestations and telangiectases with frequent respiratory infections. Absence of IgA immunoglobulins was demonstrated.
R, Hong, A J, Ammann
  +7 more sources

Ataxia

Movement Disorders Clinical Practice
Ataxia refers to incoordination that may occur in isolation or as part of many conditions. This article provides a framework for the clinical recognition and treatment of ataxia.The development of genetic techniques, including next-generation sequencing, over the past 30 years has facilitated the characterization of many forms of ataxia, including ...
Katsuki Eguchi, Hiroaki Yaguchi, Ichiro Yabe   +2 more
openaire   +5 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