Autosomal dominant ataxias expression profiles based on distinct clinical phenotypes.
Objective: We examined whether distinct phenotypes in genetic ataxias have any implications for disease pathophysiology. Background: Inherited ataxias affect at least 150,000 people in the…Refractory Orthostatic Hypotension, Anterocollis Predominant Cervical Dystonia and Parkinsonism Associated with a Previously Undiscovered SYT14 Gene Mutation
Objective: We present a case of a patient with spinocerebellar ataxia symptoms associated with a previously unknown mutation of the SYT14 gene. Background: Spinocerebellar ataxias…The Role of Mitochondrial DNA Haplogroups in determining the Age of Onset in Indian SCA2 Patients.
Objective: To investigate the contribution of mitochondrial DNA (mtDNA) haplogroups to the age at onset (AO) of Spinocerebellar Ataxia type 2 (SCA2) in Indian patients,…Spinocerebellar Ataxia Type 7: First Report of Clinical and Molecular Findings of Two Family in Senegal – West Africa (Video Cases)
Objective: Describe the clinical and molecular findings in two families originating from Senegal. Background: Spinocerebellar ataxia type 7 is an inherited neurodegenerative disease caused by…Three Siblings with Progressive Cerebellar Ataxia Associated with a Rare PRKCG Variant
Objective: We report three siblings with late-onset, slowly progressive cerebellar ataxia associated with a c.475G>A (p.Gly159Arg) missense variant in the PRKCG gene. Background: Spinocerebellar ataxia type 14…Oculomotor Abnormalities in Spinocerebellar Ataxia Type-12: A Functional Neuroimaging Study
Objective: This study aimed to investigate eye movements, specifically dysmetric saccades and cerebellar nystagmus, in Spinocerebellar Ataxia Type-12 (SCA12) using functional magnetic resonance imaging (fMRI)…A VUS and the Value of a Biomarker in Ataxia with Oculomotor Apraxia Type 2
Objective: Objective: To demonstrate the importance of serum biomarkers, such as alpha-fetoprotein (AFP), in the diagnostic evaluation of Ataxia with Oculomotor Apraxia Type 2 (AOA2).…Clinical and Genetic profile of patients presenting with Adult-onset cerebellar ataxia of probable genetic aetiology
Objective: To study the genetic profile of patients presenting with adult-onset cerebellar ataxia of probable genetic aetiology using whole exome and mitochondrial sequencing (WEMS) Background:…Phenotypic, Genotypic, Imaging and Neuropsychological Profile of Friedreich Ataxia
Objective: 1. To characterise the phenotypic and genotypic spectrum of patients with Friedreich Ataxia2. To describe the imaging findings and to assess the neuropsychological profile…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…
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