Late Onset Cerebellar Ataxia in a Patient with a Heterozygous Pathogenic KIF1A Mutation: A Case Report
Objective: Expand upon the current phenotypic understanding of those with KIF1A-associated neurological disorder (KAND), including late onset progressive cerebellar ataxia (CA). Background: KAND encompasses a group…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…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…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…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…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…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…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…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.…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)…
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