Brainstem Subsegmentation in Spinocerebellar Ataxia Type 3 (SCA3)
Objective: The aim of our work is to create a novel protocol for manual subsegmentation of the human brainstem for creating accurate brainstem labels for…SCA27B, an Elusive Diagnosis with Effective Symptomatic Treatment: Two Cases of Late-Onset Progressive and Episodic Cerebellar Ataxia
Objective: We present two cases of late-onset progressive and episodic cerebellar ataxia with prolonged courses of complex diagnostic work-up and management prior to genetic Spinocerebellar…The FGF14-SCA27B GAA•TTC Repeat Shows Marked Somatic Expansion in the Cerebellum
Objective: To characterize somatic instability and molecular mechanisms of the FGF14 GAA•TTC repeat across serial blood samples, fibroblasts, induced pluripotent stem cells (iPSCs), and post-mortem brains. Background: Spinocerebellar…Clinical Progression and Biomarkers in Spinocerebellar Ataxia Type 31, A Form Unique to and Common in Japanese.
Objective: The objective of this study is to find a useful clinical marker that reflect progression of spinocerebellar ataxia type 31 (SCA31). Background: SCA31 is…Response Inhibition and Cortical Excitability in selected SCA subtypes in an Indian Cohort
Objective: This study examined response inhibition deficits using the Stop-Signal Reaction Time (SSRT) paradigm in different Spinocerebellar Ataxia (SCA) subtypes and explored cortical involvement through…Case Report of Spinocerebellar Ataxia 13 Presenting with Pure Cerebellar Ataxia
Objective: We report the spinocerebellar ataxia 13 (SCA13) patient who demonstrated childhood-onset pure cerebellar ataxia. Background: SCA13 is a rare cause of autosomal-dominant cerebellar ataxia,…Tremulous Machado-Joseph Disease
Objective: To describe a case of spinocerebellar ataxia type 3 (SCA3) presenting with tremor. Background: Tremor is not a frequent manifestation in SCA3, especially as…Fixel Analysis of Diffusion Imaging in Cerebellar Tracts as a Quantitative Marker of Disease Progression in Spinocerebellar Ataxia
Objective: This study aimed to identify white matter changes in the brain of presymptomatic and early-stage SCA1 and SCA3 mutation carriers using fixel-based analysis of…Spinocerebellar ataxia type 2 (SCA2) and Seizures: Is There a Correlation?
Objective: We describe 3 patients of SCA2 with seizures, a rare phenomenology. Background: Spinocerebellar ataxia (SCA) is a heterogenous group of autosomal dominant neurodegenerative ataxic…4-Aminopyridine improves downbeat nystagmus in SCA27b: A case report
Objective: To assess objective clinical improvement in video-oculography in a patient with SCA27b on 4-aminopyridine (4-AP) treatment. Background: Spinocerebellar ataxia 27b (SCA27b; MIM 620174) is…
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