Genetic diagnosis of Chorea-acanthocytosis using whole exome sequencing revealed novel VPS13A Gene mutation
Objective: We hereby report a patient who is genetically confirmed Chorea-acanthocytosis (ChAc). Background: ChAc is a rare autosomal recessive genetic disorder caused by mutation of…Rare causes of Opsoclonus Myoclonus Ataxia Syndrome
Objective: To evaluate for rare causes of Opsoclonus Myoclonus Ataxia Syndrome. Background: Opsoclonus Myoclonus is a rare acute onset neurological disorder characterized by associated ocular,…Benefit and Weakness with botulinum toxin: time course and relationship.
Objective: To compare the timecourse of and relationship between benefit and weakness after botulinum toxin (BoNT) injection. Background: The timecourse of benefit onset and duration…Somatization disorder (SD) and Parkinson’s Disease (PD) in Mexican population
Objective: Identify, in Mexican patients with PD, the prevalence of SD as well as its impact on cognitive and motor impairment. Background: SD refers to…Differences in correlation with cardiac sympathetic denervation between depression and anhedonia in drug naïve Parkinson disease patients
Objective: To compare the correlation with some assessments of DAT scan and myocardial MIBG scintigraphy between depression and anhedonia in drug naive Parkinson's Disease (PD)…Can a smartphone accelerometer differentiate between functional and organic tremor ?
Objective: The aim of the study was to determine if a smartphone accelerometer can distinguish functional tremor from organic tremor. Background: Differentiating functional tremor from…Modern aspects of genetics of child cerebral palsy with symptomatic epilepsy
Objective: Objective of the study was the molecular genetic aspects of child cerebral palsy and symptomatic epilepsy in children. Background: From a genetic point of…Using whole genome sequencing and intronic sequence analysis to identify pathogenic variants in Parkin-related Parkinson’s Disease
Objective: To clarify the genetic cause of autosomal recessive early-onset Parkinson’s Disease (EOPD) for which only a single heterozygous coding mutation could be identified. Background:…Longitudinal DNA methylation changes, in blood, associated with Parkinson’s disease progression
Objective: To determine if whole blood DNA methylation profiles could distinguish Parkinson's disease from controls and whether any changes correlate with disease progression. Background: Parkinson’s…The role of LRP10 mutations in Parkinson’s Disease and Dementia with Lewy Bodies
Objective: To test LRP10 in a cohort of Italian patients, with a clinical diagnosis of either Parkinson’s Disease (PD) (n=316) or Dementia with Lewy Bodies…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.