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Spatial perspective taking is impaired in spinocerebellar ataxias and Friedreich ataxia [PDF]

Scientific Reports
Spinocerebellar ataxias (SCA) are rare neurodegenerative diseases affecting the cerebellum and its connections, leading to progressive motor disability and cognitive impairment as part of the cerebellar cognitive affective syndrome.
Simona Karamazovova, Martina Laczó, Veronika Matuskova, Natalie Svecova, Lucie Stovickova, Zuzana Blichova, Jaroslava Paulasova Schwabova, Michaela Kuzmiak, Jan Laczó, Martin Vyhnalek   +9 more
doaj   +2 more sources

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   +1 more
exaly   +3 more sources

Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia [PDF]

Annals of Indian Academy of Neurology
Hereditary ataxias are a group of disorders characterized by clinical manifestations of cerebellar degeneration. Autosomal dominant and recessive forms have been described, and tandem nucleotide repeat expansion are the most prevalent forms of genetic ...
Pooja Sharma, Jupita Handique, Kriti Kashyap, Akhilesh K Sonakar, Achal K Srivastava, Mohammed Faruq   +5 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

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

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

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   +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

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