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…Alterations in the Daily Living Gait and Mobility during the Day and Night among Individuals with Cerebellar Ataxia, SCA3: An Exploratory Study
Objective: In this pilot study, we aimed to examine step counts and daily living physical activity, confirm findings regarding gait variability, explore changes in nighttime…Is fatigue a rate limiting factor for achieving motor learning and functional gains in people with spinocerebellar ataxia? (PRIME-Ataxia RCT)
Objective: Determine the feasibility and preliminary efficacy of an 8-week telehealth intervention of high intensity aerobic exercise prior to balance training (HIBT) compared to low…Spinocerebellar Ataxia Type 49 presenting with Early onset Dystonia-Ataxia in an Indian Female
Objective: To report the first Indian patient with SCA 49 who presented in the second decade and to expand the clinical phenotype to include dystonic…Value of DaTSPECT in rare movement disorders: neurodegenerative diseases
Objective: To explore the expanding indications of dopamine transporter imaging (DaT Spect) beyond the established indications. Background: DaTSPECT is a well-established method to rule out…Nonmotor symptoms in Spinocerebellar ataxia type 12 (SCA 12)
Objective: To find the frequency and extent of depression, autonomic disturbances, and cognitive impairment in patients with SCA12 and exploring its association with motor symptoms…Non classified SCA-like presentation of GEMIN5 + GYG-1 mutation. Case report
Objective: To report the first case of a patient with GEMIN5 and GYG-1 genes mutations who presented with features of both SCA and myopathy. Background:…Extended phenotypes of autosomal recessive cerebellar ataxia type 1: learn from a novel mutation of SYNE1 gene
Objective: Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause ARCA type 1 with a remarkable heterogeneity in clinical…
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