Ataxin-2 gene in the Cuban population: Mutagenesis and epigenetic DNA methylation disease influencing phenotype
Objective: To characterize genetics and epigenetics factors contributing to the origin and accounting to the Cuban SCA2 phenotype variability. Background: CAG repeat expansions in ATXN2…Apathy : Clinical Correlates in Parkinson’s disease Psychosis
Objective: To determine the frequency and clinical correlates of apathy in Parkinson’s disease (PD) psychosis. Background: The underlying pathology of apathy in PD psychosis, itself…GBA p.Glu326Lys substitution increases the risk to develop Parkinson’s disease; is it enough to affect disease phenotype?
Objective: To evaluate the frequency of GBA p.Glu326Lys (E326K) carriers in a large cohort of Parkinson's disease patients of Ashkenazi Jewish origin (AJPD) and to…GBA and ATP13A mutation and PD: clinical phenotype, eye movements and pathogenic implications
Objective: To characterize a patient with GBAand ATP13A2gene mutations. Background: Mutations of GBA(Glucocerebrosidase) and ATP13A2(P5-ATPase) genes are risk factors for Parkinson’s disease (PD). Homozygous mutations…Creutzfeldt-Jakob disease with a M232R substitution (CJD232) masquerading as parkinson look-alike syndrome
Objective: To describe a case of Creutzfeldt-Jakob disease with a M232R substitution (CJD 232) presented with parkinson look-alike syndrome and showed remarkably long survival time.…Sleep disordered breathing and REM sleep behavior disorder in military Veterans with Parkinson’s disease
Objective: To study the association of sleep disordered breathing with REM sleep behavior disorder in US military Veterans with Parkinson’s disease. Background: Both REM sleep…Considerations before initiating therapy in Parkinsonism: basing on the health-related quality of life.
Objective: We aimed to compare the determinants of life quality between drug naïve PD and MSA-P patients. Background: To improve the quality of life (QoL)…Reliability and Validity of Modified Four Square Step Test (mFSST) Performance in Individuals with Parkinson’s Disease.
Objective: Determine the reliability and validity of the modified Four Square Step Test in individuals with Parkinson’s disease. Background: Parkinson’s disease (PD) is a complex…SWALLOWING VIDEOENDOSCOPY IN PATIENTS WITH PARKINSON’S DISEASE WITH DEEP BRAIN STIMULATION
Objective: Objective: to characterize swallowing in patients with DBS, comparing ON and OFF stimulation state. Background: Swallowing dysfunction is a frequent complication of Parkinson’s disease…Wearable versus marker-free technologies: does it matter for clinical gait analysis?
Objective: To compare wearable sensor-based and marker-less 3D video-based gait analysis in two neurodegenerative disorders associated with gait dysfunction. Background: Quantitative gait analysis supports diagnosis…
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