Evaluating IL6 and mitochondrial DNA levels as a potential biomarker in carriers of Parkin and PINK1 mutations
Objective: To discriminate affected PARK-Parkin and PARK-PINK1 mutation carriers from idiopathic Parkinson’s disease (PD) patients and healthy controls using serum IL-6 and mtDNA levels. Background:…Spastic Paraplegia Type 64: a Case Series
Objective: to present four cases (two families) with a likely diagnosis of spastic paraplegia type 64 (SPG 64), broadening this disease phenotype. Background: SPG64 is…The PLA2G6 Gene Mutation Causes Parkinson’s Disease: A Case Report
Objective: To investigate the clinical features of Parkinson's disease caused by PLA2G6 gene mutation． Background: Early-onset Parkinsonism is a group of syndromes characterized by Parkinson's disease…Prevalence of Fabry disease among patients with Parkinson’s disease
Objective: To determine the prevalence of Fabry disease (FD) among patients with Parkinson’s disease (PD). Background: Increased prevalence of PD disease has been previously reported…Sleep Aspects on Video-Polysomnography in P.A53T SNCA Mutation Carriers
Objective: To determine whether REM sleep behavior disorder (RBD) and other sleep abnormalities occur in carriers of the p.A53T alpha-synuclein gene (SNCA) mutation, the prototypical…Determining Outcome of Deep Brain Stimulation Surgery in Parkinson’s Disease Patients
Objective: To assess the role of monogenic forms of PD and polygenic risk scores (PRS) on the motor and cognitive outcome of deep brain stimulation…Digenic inheritance of WARS2 and CHRNA6 mutations in infantile parkinsonism
Objective: To provide evidence of digenic inheritance in infantile parkinsonism. Background: Oligogenic inheritance has been demonstrated in PD[1],where patients with a primary genetic cause can…Associations of Genetic, Epigenetic and Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: To explore relationships between demographic, clinical and behavioral phenotypes and underlying genetic and epigenetic features, utilizing a large cohort of PKAN patients. Background: PKAN…Different clinical entities of Segawa syndrome within a family
Objective: We report two cases of mother and daughter, both having different expressions of dystonic movements. Background: One of rare dystonic disorders is Segawa syndrome…Differential effects of stem cell therapy in adult and middle-aged Parkinsonian mice
Objective: To perform an in-depth analysis of the effects of transplanting neural stems cells in Parkinsonian mice. Background: Parkinson´s disease (PD) is the second most…
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