TMEM230 mutation analysis in Parkinson’s disease in a Chinese population
Objective: To investigate the prevalence of TMEM230 mutations in Chinese patients with familial and sporadic PD. Background: Recently, Hanxiang Deng and colleagues identified a missense…SNCA multiplication consortium: Clinicogenetic analysis of SNCA multiplication probands and families.
Objective: Clinicogenetic analysis of 57 affected probands with SNCA multiplication, 3 unaffected carriers, and their 60 families. To use informative pedigrees to identify penetrance modifiers…The identification of molecular-genetic background of familial atypical parkinsonism in “Hornacko”, a specific region of the south-eastern Moravia, Czech Republic.
Objective: To assess the genetic background in the pedigrees with identified autosomal-dominant inheritance of parkinsonism. Background: Increased prevalence of parkinsonism with cognitive deterioration was detected…Specific Bdnf variants are associated with suboptimal response to levodopa but not to other dopaminergic medications or deep brain stimulation in Parkinson’s disease
Objective: We examined the impact of rs6265 and other brain-derived neurotrophic factor (Bdnf) variants in two subject cohorts: 1) early-stage Parkinson’s disease (PD) subjects from…Baseline Clinical Predictors of Future Psychotic Symptoms in de novo Parkinson Disease
Objective: To determine which baseline clinical symptoms are associated with future psychotic symptoms in de novo Parkinson disease (PD). Background: Because psychosis in PD is…Impulse Control Disorders in Parkinson’s Disease: Prevalence and Clinical Features in the Rush University Movement Disorders Clinic
Objective: Investigate the prevalence and characteristics of Impulse Control Disorders (ICDs) in the PD population as compared to non-ICD patients in the Rush University Movement Disorders (RUMD) database.…Accuracy measures of imbalance bedside examination
Objective: This study explores the accuracy of bedside examinations used to screen for imbalance, using the Berg Balance Scale (BBS) as gold standard(cut-off point:45). Background:…Can glabellar and palmomental reflexes differentiate neurodegenerative from non-neurodegenerative parkinsonism?
Objective: To evaluate if the presence of glabellar and palmomental reflexes in patients with parkinsonism is significantly more common in neurodegenerative etiology compared with non-neurodegenerative…The Corticobasal Degeneration Functional Rating Scale (CBD-FS)
Objective: To develop a patient/care giver-reported scale that is capable of assessing functional disability in CBD that can be easily and reliably used in clinical…Apathy in adolescents with Tourette syndrome (TS), more than a teenager attitude
Objective: To explore the presence of apathy in teenagers with TS. Background: TS is a complex neuropsychiatric disorder generally classified as a hyperkinetic disorder. Apathy…
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