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…Presence of neuropathy in most frequent hereditary cerebellar ataxia SCA1, SCA2 and FRDA in Serbian population
Objective: The aim of our study is to determine the frequency and pattern of neuropathy in patients with the most frequent hereditary ataxias in Serbian…Association of Early and late age of onset with Mitochondrial DNA haplogroup in Indian Spinocerebellar Ataxia type- 2 patients.
Objective: To explore the role of mtHaplogroups in early and late onset SCA2 patients. Background: An unstable expansion of a CAG tract in the ATXN2…
- « Previous Page
- 1
- 2
- 3
- 4
- 5
- 6
- …
- 16
- Next Page »