Focal dystonia as an early symptom of CACNA1A mutation: case report and literature review.
Objective: We describe two cases, a father-daughter pair, of CACNA1A mutation with task specific dystonia as an early feature. The father otherwise had a phenotype…Prof. Wadia’s contributions to neurology and SCA2
Objective: To present a review of the seminal contributions of Professor Wadia to neurology, in particular the first description of SCA2. Background: Spinocerebellar ataxia type…Deep Brain Stimulation in a case with Parkinsonism and SCA2 mutation: case report highlighting challenges and outcome
Objective: We describe the response to Deep Brain Stimulation (DBS) in a patient with Parkinsonism having significant motor fluctuations and heterozygous Spino Cerebellar Ataxia type…Effect of Virtual Reality on Balance Rehabilitation
Objective: To verify the effect of a balance rehabilitation program with virtual reality (VR) in patients with SCA Background: Spinocerebellar ataxias (SCAs) constitute a group…Neurotological Findings in Sporadic Ataxia
Objective: To examine vestibular disorders in patients with sporadic ataxia (SA). Background: Ataxias are a heterogeneous group of neurodegenerative diseases characterized by the presence of…A comparative study between OCT in SCA3 and 10
Objective: To describe OCT findings in spinocerebellar ataxia (SCA) type 10, correlate it with expansion size and disease severity and compare with those of SCA3…Testing candidate transcriptional biomarkers of asymtpomatic and symptomatic stages in spinocerebellar ataxia type 3 (SCA3)
Objective: To investigate the potential of nine candidate genes as transcriptional biomarkers of asymptomatic and symptomatic stages of spinocerebellar ataxia type 3 (SCA3). Background: An…Neurologic phenotipic variability in spinocerebelar ataxia hype 2 (SCA2)
Objective: Describe the clinical findings of a Brazilian cohort of SCA2 patients, stratify them according the presence of sub-phenotypes: cognitive deterioration, sensory loss, amiotrophy, parkinsonism…Autosomal recessive ataxia due to ANO10 mutations; full and novel phenotypic data in an Irish pedigree
Objective: We report on a family with ataxia due to mutations in the ANO10 gene to provide comprehensive clinical and cognitive data on the associated…A cross-sectional study in spinocerebellar ataxia type 12 (SCA-12) patients from a tertiary care center in Eastern India
Objective: To study phenotype and Quality of life determinant in patients with SCA-12. Background: Spinocerebellar ataxia type 12 (SCA-12) is an extremely rare autosomal dominant,…
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