An Unusual and Treatable Cause of Cerebellar Ataxia and Dystonia: Homozygous COQ4 Gene Mutation
Objective: To report a case of Coenzyme Q10 (CoQ10) deficiency due to COQ4 variants causing adult-onset ataxia and dystonic postures. Background: CoQ10 is an essential…Physical Activity Levels and Demographic Characteristics in Individuals with Huntington’s Disease: Insights from the ENROLL-HD Database in an Argentinian Movement Disorder Center
Objective: To assess PA levels in individuals enrolled in the ENROLL-HD database, and compare demographic characteristics between PE practitioners, and non-practitioners Background: Neurological disorders have been…Association Between Over-the-Counter Dietary Supplements and Parkinson’s Disease Symptom Severity Over Time
Objective: The goal of this study was to evaluate whether the use of nutraceuticals and dietary supplements are associated, on a population level, with Parkinson’s…Cerebellar bioenergetic depletion following ubiquinol supplementation in a patient with COQ8A-related ataxia
Objective: To non-invasively map the individual treatment response in a patient with COQ8A-related ataxia following coenzyme Q10 supplementation. Background: Primary coenzyme Q10 (CoQ10) deficiency is…Dystonia ataxia (DYTCA) syndrome with prominent handwriting deterioration associated with ADCK3 mutation: two new cases and an overview of the literature
Objective: To report two new patients with ADCK3 mutation presenting with writing deterioration as first sign of DYTCA syndrome. To provide an overview of clinical…The Roles of Diet, Exercise, & Supplements in Parkinson’s Disease Progression
Objective: The goal of this ongoing study is to describe whether modifiable aspects of lifestyle are associated with PD symptom severity and progression. Background: Epidemiological…Three-year follow-up of high-dose ubiquinol supplementation in a case of familial multiple system atrophy with compound heterozygous COQ2 mutations
Objective: To present the detailed clinical features of a patient with familial MSA carrying compound heterozygous COQ2 mutations and report the outcome of a high-dose ubiquinol…Are Parkinson’s disease futility studies futile?
Objective: Revisit Phase II futility studies. Background: Published results of a Phase III trial of creatine monohydrate for Parkinson's disease (PD) in the presence of…