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Single-Session Cerebellar Transcranial Direct Current Stimulation Improves Postural Stability and Reduces Ataxia Symptoms in Spinocerebellar Ataxia
Spinocerebellar ataxia (SCA) results in balance and coordination impairment, and current treatments have limited efficacy. Recent evidence suggests...
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Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia—experience from an Italian cohort
BackgroundAutosomal-dominant spinocerebellar ataxia (ADCA) due to intronic GAA repeat expansion in FGF14 (SCA27B) is a recent, relatively common...
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Spinocerebellar ataxia type 14 (SCA14) in an Argentinian family: a case report
BackgroundHereditary spinocerebellar ataxias are a group of genetic neurological disorders that result in degeneration of the cerebellum and...
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Psychometric Validation of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) in Patients With Spinocerebellar Ataxia
This study aimed to generate evidence to support psychometric validity of the modified functional Scale for the Assessment and Rating of Ataxia...
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Rare association between spinocerebellar ataxia and amyotrophic lateral sclerosis: a case series
IntroductionIn this work, we describe a new case of association between SCA2 and MND.
Case ReportA 58-year-old man who was diagnosed with...
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Spatiotemporal Gait Analysis of Patients with Spinocerebellar Ataxia Types 3 and 10 Using Inertial Measurement Units: A Comparative Study
Given the high morbidity related to the progression of gait deficits in spinocerebellar ataxias (SCA), there is a growing interest in identifying...
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Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia
BackgroundLittle is known about the progression of health-related quality of life (HRQoL) and predicting factors in spinocerebellar ataxia (SCA)....
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Progressive white matter degeneration in patients with spinocerebellar ataxia type 2
PurposeSpinocerebellar ataxia type 2 (SCA2) is a progressive neurodegenerative disorder characterized by cerebellar atrophy. However, studies to...
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Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: a Validation Study of the EQ-5D-3L
Although health-related quality of life (HRQoL) has developed into a crucial outcome parameter in clinical research, evidence of the EQ-5D-3L...
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Ataxia
The chapter provides a thorough discussion of ataxia, frequently encountered in referrals to movement disorder clinics, highlighting its diagnostic...
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Spinocerebellar ataxia type 11 (SCA11): TTBK2 variants, functions and associated disease mechanisms
Spinocerebellar ataxia type 11 (SCA11) is a rare type of autosomal dominant cerebellar ataxia, mainly characterized by progressive cerebellar ataxia,...
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Association Between Serum Neurofilament Light Chain and Neurochemistry Deficits in Patients with Spinocerebellar Ataxia Type 3
Extensive evidence supports the claim that the serum neurofilament light chain (sNfL) can be used as a biomarker to monitor disease severity in...
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Fusion of 3D feature extraction techniques to enhance classification of spinocerebellar ataxia type 12
Spinocerebellar ataxia type 12 (SCA12) is a neurogenetic disease, marked with prominent action tremors in the upper limbs. Neuroimaging techniques...
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Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias
Purpose of ReviewSpinocerebellar ataxias (SCAs) are autosomal dominant degenerative syndromes that present with ataxia and brain stem abnormalities....
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Cognitive Decline and Mood Alterations in the Mouse Model of Spinocerebellar Ataxia Type 2
Spinocerebellar ataxia type 2 (SCA2) is a hereditary disorder, caused by an expansion of polyglutamine in the ataxin-2 protein. Although the mutant...
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Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro
ObjectiveThe objective of this study is to describe the first series of spinocerebellar ataxia (SCA) in Rio de Janeiro, whose population has a high...
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Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37
Spinocerebellar ataxia subtype 37 (SCA37) is a rare disease originally identified in ataxia patients from the Iberian Peninsula with a pure...
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A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report
Spinocerebellar ataxia 34 (SCA34) is an autosomal dominant inherited disease characterized by age-related cerebellar degeneration and ataxia caused...
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Spinocerebellar Ataxia Type 10 with Atypical Clinical Manifestation in Han Chinese
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant cerebellar ataxia accompanied by extracerebellar signs and other neurological...
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Spinocerebellar Ataxia Type 2
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease caused by CAG repeat expansion in the first...