Results 41 to 50 of about 83,390 (218)
Otoneurological Abnormalities in Patients with Friedreich's Ataxia
International Archives of Otorhinolaryngology, 2017 Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset in most cases.
Bianca Simone Zeigelboim +6 more
doaj +1 more source
Ataxic Gait in Essential Tremor: A Disease-Associated Feature?
Tremor and Other Hyperkinetic Movements, 2019 Background: While accumulating evidence suggests that balance and gait impairments are commonly seen in patients with essential tremor (ET), questions remain regarding their prevalence, their relationship with normal aging, whether they are similar to ...
Ashwini K. Rao, Elan D. Louis
doaj +1 more source
Characteristics of Individuals at Risk for Spinocerebellar Ataxia
Pediatric Neurology Briefs, 2013 Investigators at University Hospital of Bonn and 13 other centers in Germany, France, and Italy conducted a prospective, longitudinal observational study (2008-2011) of offspring or siblings of patients with spinocerebellar ataxias (SCA)-1, 2, 3, and 6.
J Gordon Millichap
doaj +1 more source
Parkinsonism in Spinocerebellar Ataxia [PDF]
BioMed Research International, 2015 Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence.
Park, Hyeyoung +2 more
openaire +2 more sources
International Archives of OtorhinolaryngologyIntroduction Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases.
Jéssica Spricigo Malisky +7 more
doaj +1 more source
Spinocerebellar Ataxia Type 27B (SCA27B): A Hereditary Ataxia in Portugal
Acta Médica PortuguesaSpinocerebellar ataxia type 27B (SCA27B) is a recently discovered hereditary disease caused by (GAA)≥250 repeat expansion in the fibroblast growth factor 14 (FGF14) gene, and multiple studies have recognized it as one of the most common causes of ...
Vítor Mendes Ferreira +3 more
doaj +1 more source
Scientific Reports, 2019 Spinocerebellar ataxias 2 and 3 (SCA2 and SCA3) are dominantly inherited neurodegenerative diseases caused by expansion of polyglutamine-encoding CAG repeats in the affected genes.
Ching-Yu Chuang +6 more
semanticscholar +1 more source
Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler +20 more
wiley +1 more source
The Geographic Diversity of Spinocerebellar Ataxias (SCAs) in the Americas: A Systematic Review
Movement Disorders Clinical Practice, 2019 The frequency and presentation of each of the most common forms of spinocerebellar ataxias (SCAs) varies widely. In the case of the Americas, this diversity is particularly dynamic given additional social, demographic, and cultural characteristics.
H. Teive +3 more
semanticscholar +1 more source
Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende +26 more
wiley +1 more source