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…Mixed Cerebellar Ataxia in a Patient with a Novel FAT2 Gene Variant Associated with SCA45
Objective: We describe a patient with late-onset ataxia, cognitive impairment, and parkinsonism with a novel missense variant in FAT2, a gene implicated in spinocerebellar ataxia…A Head-Turning Case of SCA10 with Dystonia
Objective: Present a SCA10 patient presenting with rare phenomenology of dystonia in addition to ataxia. Background: The spinocerebellar ataxias (SCAs) are a heterogenous group of…Association of expanded CAG repeat with autonomic function in Spinocerebellar Ataxia Type-2 (SCA-2)
Objective: To investigate association of expanded CAG repeat with autonomic function in SCA2 patients. Background: SCA2 is a progressive neurodegenerative disorder characterized by gait, limb…Clinical and Genetic Profile of Spinocerebellar Ataxias in a Tunisian Cohort
Objective: Our aim was to determine the clinical, genetic and radiological characteristics of spinocerebellar ataxias (SCA) in a Tunisian cohort. Background: SCA is a heterogenous…Substantia Nigra Degeneration In Spinocerebellar Ataxia 2 And 7 Using Neuromelanin-Sensitive Imaging
Objective: To assess substantia nigra pars compacta (SN) degeneration in SCA type 2 and 7 using neuromelanin-sensitive MRI Background: Spinocerebellar ataxias (SCA) are often associated…
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