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…A case of progressive ataxia with palatal tremor (PAPT) syndrome due to idiopathic bilateral hypertrophic olivary degeneration
Objective: To describe a patient with Progressive Ataxia with Palatal Tremor (PAPT) syndrome due to Idiopathic Bilateral Hypertrophic Olivary Degeneration Background: Hypertrophic olivary degeneration (HOD)…Neurotological evaluation on cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (canvas)
Objective: To describe the alterations observed in the vestibular testing in patients with CANVAS. Background: The Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome…
- « Previous Page
- 1
- …
- 3
- 4
- 5
- 6
- 7
- …
- 27
- Next Page »