Pronounced Cervical Dystonia in Ataxia with Vitamin E Deficiency
Objective: Objective: To describe a case report of an atypical phenotype of ataxia with vitamin E deficiency (AVED) and marked cervical dystonia. Background: Background: AVED…Clinical and genetic characteristics of a cohort of 20 patients with confirmed biallelic pathogenic SPG7 mutations from the North West of England
Objective: To identify the prevalence and phenotype of patients with biallelic pathogenic SPG7 mutations Background: Spastic Paraplegia Type 7 (SPG7) is an autosomal recessive disorder…Dopamine dysfunction in nigro-striatal pathway—multi-axial pathology in SCA 12
Objective: To assert pathophysiology in spinocerebellar ataxia type 12 (SCA12) extends way beyond cerebellar or spinal pathology. To further sensitise scientific community about consistent nigro-striatal…Impaired reinforcement learning in patients with cerebellar ataxia
Objective: To further characterize cerebellar learning processes as well as learning impairment pattern in patients with cerebellar dysfunction. Background: Supervised learning (i.e., learning from error)…Diagnostic algorithm in recessive and sporadic early-onset ataxias
Objective: To develop a diagnostic algorithm that allows to differentiate recessive or sporadic ataxias by the clinical phenotype, biochemical markers and neuroimaging studies of the…Sporadic progressive ataxia and palatal tremor: a case series
Objective: To further characterize the clinical syndrome of sporadic progressive ataxia and palatal tremor (PAPT). Background: Defined by adult-onset progressive cerebellar features and tremor of…Cerebellar and other motor symptoms relationship with MRI features in Huntington disease.
Objective: To analyze the relationship between motor scales and brain magnetic resonance imaging (MRI) features in a cohort of Huntington disease (HD) patients. Background: Cerebellar…Differential temporal dynamics of axial and appendicular ataxia in SCA3
Objective: To investigate the temporal dynamics of Scale for the Assessment and Rating of Ataxia (SARA) item scores in patients with spinocerebellar ataxia type 3…Paraneoplastic Cerebellar Ataxia Due To Ovarian Teratoma: A Case Report
Objective: report the case of a young woman who presented with rapidly progressive ataxia caused by an ovarian teratoma Background: paraneoplastic cerebellar degeneration (PCD) is…Analyzing gait videos to identify and evaluate spinocerebellar ataxia types 1 and 3
Objective: To analyze videos of gait to: 1) identify spinocerebellar ataxia types 1 and 3, and 2) predict scores on the gait task section of…
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