Results 1 to 10 of about 12,825 (214)

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   +3 more sources

Sleep disorders in cerebellar ataxias [PDF]

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   +2 more sources

MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias

Tomography, 2022
MRI shows the three archetypal patterns of CNS volume loss underlying progressive ataxias in vivo, namely spinal atrophy (SA), cortical cerebellar atrophy (CCA) and olivopontocerebellar atrophy (OPCA).
Mario Mascalchi
doaj   +2 more sources

Autophagy at the Crossroads of Protein and RNA Toxicity in Repeat Expansion Cerebellar Ataxias [PDF]

Cells
Repeat expansion cerebellar ataxias comprise a genetically and mechanistically heterogeneous group of neurodegenerative disorders unified by the pathological expansion of short tandem repeats (STRs) beyond a disease-causing threshold.
Silvia Tortoriello, Simona Rossi, Ilaria Della Valle, Nadia D’Ambrosi, Mauro Cozzolino   +4 more
doaj   +2 more sources

The role of sleep in neuromuscular disorders

Frontiers in Neurology, 2023
Sleep represents a major frontier both in clinical myology and as a new possibility for delivering treatment to neuromuscular patients since various neuromuscular cases present a variable degree of disordered sleep and such conditions should be diagnosed
Corrado I. Angelini, Carl Ansevin, Gabriele Siciliano   +2 more
doaj   +1 more source

Ataxias hereditarias: clasificación y diagnóstico

Kranion, 2022
Las ataxias hereditarias (AH) son enfermedades neurodegenerativas de base genética que traducen una disfunción del cerebelo y sus conexiones. Si el cuadro clínico se limita a la afectación del cerebelo se consideran «ataxias puras»; si implica la ...
Francisco Javier Arpa Gutiérrez, María José Abenza Abildúa   +1 more
doaj   +1 more source

Treatable Ataxias: How to Find the Needle in the Haystack? [PDF]

Journal of Movement Disorders, 2022
Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology, vascular ...
Albert Stezin, Pramod Kumar Pal
doaj   +1 more source

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

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

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