Speech, gait and vestibular instrumental assessment in CANVAS: a case series.
Objective: To describe through a systematic clinical-instrumental approach speech, gait and vestibular alterations in cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Background: CANVAS…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…Validation of the EQ-5D-3L in Spinocerebellar Ataxia (SCA)
Objective: Our study aims to assess the acceptability, validity and responsiveness of the EQ-5D-3L in SCA types 1, 2, 3 and 6. Background: Although health-related…Factors influencing health-related quality of life of patients with spinocerebellar ataxia
Objective: The objective was to demonstrate the progression of HRQoL over time and identify factors affecting SCA patients' HRQoL. Background: Spinocerebellar ataxias (SCA) comprise a…Relationship of health-related quality of life (HRQoL) patterns with clinical diagnosis in patients with spinocerebellar ataxia (SCA) – A latent class analysis
Objective: The aim was to identify patterns of the EQ-5D-3L in patients with SCA to describe the relationship between the patient’s diagnosis and clinical parameters.…Validity and responsiveness of the EQ-5D-3L in Friedreich-Ataxia
Objective: The objective was to validate the well-established EQ-5D in Friedreich’s ataxia (FA). Background: Health-related quality of life (HRQoL) is increasingly researched in FA. The…The role of Anti-Ribosomal P antibody in Autoimmune cerebellar ataxia
Objective: To describe the clinical features and presentation of an auto-immune cerebellar ataxia with asymmetric Holmes tremor and its therapeutic response. Background: Autoimmune cerebellar ataxia…The diagnostic utility of the new MDS criteria for multiple system atrophy: a retrospective autopsy cohort study
Objective: This study aimed to validate the clinical utility of the newly proposed criteria for multiple system atrophy (MSA) by the International Parkinson and Movement…
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