Reduced Whole-blood Energy Metabolism in Parkinson’s Disease.
Objective: We aimed to investigate the dynamics of whole-blood energy metabolism in Parkinson’s disease (PD) and evaluate its clinical relevance. Background: Emerging evidence indicates that…Homozygous ATP13A2 Mutation Associated Kufor-Rakeb Syndrome Expanding The Spectrum Of Juvenile Parkinsonism
Objective: To describe the clinical, genetic, and phenotypic aspects of a patient with Kufor-Rakeb syndrome (KRS), an ultra-rare juvenile parkinsonism caused by ATP13A2 mutations. Background:…Dopamine Responsive ATP1A3 Dystonia Parkinsonism A Case Report
Objective: We present a rare familial case of a patient with ATP1A3 dystonia parkinsonism, which improved with levodopa. Background: Rapid onset dystonia parkinsonism can be…Diverse clinical phenotypes of ATP1A3 mutations-A case series of four patients
Objective: To study the clinical phenotype of all patients with ATP 1A3 mutation in the genetic study Background: ATP1A3 is associated with a broad spectrum…modulation of sodium potassium ATPase activity by norepinepherine and serotonin to find an effective cure of parkinson’s disease by introducing the novel concept of insilico drug repurposing
Objective: Parkinson's disease can cause neuropsychiatric disturbances which can range from mild to severe. This includes disorders of speech, cognition, mood, behaviour, and thought. In addition to…Developing 31-phosphorus magnetic resonance spectroscopy (31P-MRS) as an imaging biomarker to identify mitochondrial dysfunction in Parkinson’s disease
Objective: To determine if 31P-MRS can identify mitochondrial dysfunction in-vivo and if this correlates with in-vitro measures of mitochondrial function obtained from patient derived fibroblasts…Pharmacological investigation of biochemical and behavioral effects resembling Huntington’s disease utilizing selective calcium and calmodulin dependent phosphodiesterase inhibitor
Objective: To investigate the effects of selective phosphodiestrase (PDE) inhibitors in Nimodipine induced neuro degeneration (animal models of Huntington’s disease) in rats. Background: Nimodipine is…Expanding the spectrum of ATP1A3 related disorders: Continuum from alternating hemiplegia of childhood to rapid-onset dystonia parkinsonism?
Objective: To report clinical and molecular features of a family showing intrafamilial phenotypic diversity where a novel ATP1A3 mutation was found. Background: Originally there have…Alternating hemiplegia of childhood (AHC) as a new presentation of adenylate cyclase 5 (ADCY5)-mutation-associated disease
Objective: To expand and determine the clinical spectrum associated with mutations in the Adenylate Cyclase 5 gene (ADCY5). Background: Recently, mutations in the ADCY5 gene…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.