Results 31 to 40 of about 341,259 (167)

Neurorehabilitation for spinocerebellar degeneration

Rinsho Shinkeigaku, 2013
It remains to be elucidated whether there is a use- or dose-dependent effect of rehabilitative intervention on impairment and disability of spinocerebellar degeneration since the disease progressively damages cerebellar structure that plays a crucial role in motor learning.
openaire   +3 more sources

Cardiovascular Exercise Drives Neuroprotection in a Mouse Model of Spinocerebellar Ataxia 1 Via Rescue of Aberrant Splicing

Annals of Neurology, EarlyView.
Objective Spinocerebellar ataxia 1 (SCA1) is a fatal hereditary neurodegenerative disorder with no approved therapies, and gene‐targeting strategies have thus far failed in clinical trials. Exercise remains the only intervention shown to provide clinical benefit in patients with spinocerebellar ataxias (SCAs), yet the underlying mechanisms remain ...
Isabel Soto, Michael Bonomo, Brianna S. Nelthrope, Benjamin D. Carr, Emma Palmer, Mariana Sierra, Ilkim Erturk, David Peppercorn, Eleonor Cox, Tiare K. Vasconcellos, Henry L. Paulson, Hannah K. Shorrock, Sharan R. Srinivasan   +12 more
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 more
wiley   +1 more source

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Platelet Taurine Uptake in Spinocerebellar Degeneration [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1978
SUMMARY:The uptake of 14C-laurine was studied in the platelets of 20 ataxic patients and 20 age-matched normal control subjects. No significant differences were found in uptake or kinetics of taurine between the two groups of subjects. If a transport defect in taurine exists in Friedreich's ataxia, it is not present in all tissues.
FILLA, ALESSANDRO, R. F. Butterworth, G. Geoffroy, B. Lemieux, A. Barbeau   +4 more
openaire   +3 more sources

A Severity‐Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA‐Ataxia

Movement Disorders, EarlyView.
Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited neurodegenerative disease characterized by progressive loss of motor coordination. Objectives We undertook a multisite magnetic resonance imaging study to profile the spatial spread of atrophy across the brain, determine whether atrophy preferentially maps onto specific functional ...
Jason W. Robertson, Isaac Adanyeguh, David J. Arpin, Tetsuo Ashizawa, Benjamin Bender, Fernando Cendes, Xi Chen, Giulia Coarelli, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Jennifer Faber, for the ESMI MR Study Group, Juan Fernandez‐Ruiz, Mónica Ferreira, Marcondes C. França, Sophia L. Göricke, Shuo Han, Thomas Klockgether, Chen Liu, Jun Luo, Alberto R.M. Martinez, Sergio E. Ono, Chiadi U. Onyike, Gülin Öz, for the EUROSCA MR Study Group, Henry Paulson, Jerry L. Prince, Kathrin Reetz, Thiago J.R. Rezende, Matthis Synofzik, Hélio A. Ghizoni Teive, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, David Vaillancourt, Bart van de Warrenburg, Judith van Gaalen, Xingang Wang, Philipp Wegner, Sarah H. Ying, Ian H. Harding, Carlos R. Hernandez‐Castillo   +43 more
wiley   +1 more source

Spinocerebellar Degeneration

Pediatric Neurology Briefs, 1987
Two children, an 8-year old boy and a 6-year old girl, with progressive ataxia, dysmetria, hypoactive or absent deep tendon reflexes, equivocal plantar response, and sensory impairments, were investigated by pathologists and neurologists at the University of Vermont, Burlington, VT, and University of Saskatchewan, Saskatoon, Canada.
openaire   +4 more sources

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

Movement Disorders, EarlyView.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska, Maresa Buchholz, Audrey Iskandar, Marcus Grobe‐Einsler, Thomas Klockgether, Jennifer Faber, Bernhard Michalowsky   +6 more
wiley   +1 more source

The importance of central auditory evaluation in Friedreich's ataxia

Arquivos de Neuro-Psiquiatria
Objective To assess central auditory function in Friedreich's ataxia. Methods A cross-sectional, retrospective study was carried out. Thirty patients underwent the anamnesis, otorhinolaryngology examination, pure tone audiometry, acoustic immittance ...
Bianca Simone Zeigelboim, Hélio A. G. Teive, Michèlli Rodrigues da Rosa, Jéssica Spricigo Malisky, Vinicius Ribas Fonseca, Jair Mendes Marques, Paulo Breno Liberalesso   +6 more
doaj   +1 more source