Identification of two novel patients with VPS13D-related disease and characterization of a +3 splice site variant
Objective: To identify the underlying genetic cause of a childhood-onset spasticity-ataxia-tremor syndrome in a 31-year-old woman. Background: Biallelic variants in VPS13D have been linked to…Tremor genetics in clinical practice: a systematic literature review
Objective: Within the Movement Disorder Society the Task Force on Genetic Nomenclature has developed several gene panels for different movement disorders to give guidance to…Quantifying Tremor in the R6/2 Mouse model of Huntington’s Diease
Objective: To better characterize and precisely quantify the tremor widely observed in R6/2 mouse models of Huntington’s disease. Background: Tremor is a prominent feature of…Management of tremor secondary to MORC2 related neurodevelopmental disorder with deep brain stimulation
Objective: We present a case of MORC2-related neurodevelopmental disorder in a child with impairing tremor successfully managed with bilateral VIM/posterior subthalamic area deep brain stimulation…MOLECULAR-GENETIC ASPECTS OF WILSON’S DISEASE IN UKRAINE
Objective: To assess the features of molecular genetic mutations in the Ukrainian population of patients with Wilson's disease (WD). Background: Molecular genetic research becomes available…Neuronal intranuclear inclusion disease tremor-dominant subtype: a mimicker of essential tremor
Objective: This study aimed to clarify the clinical phenotype in tremor-dominant patients having the GGC repeat expansion in the NOTCH2NLC gene. Background: The GGC repeat…A new mutation in the C-terminal domain of the YY1 gene associated with Gabriele-de Vries syndrome.
Objective: To report a new mutation in the YY1 gene in a patient with Gabriele-de Vries syndrome, in which dystonia and choreoathetosis were the most…Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients and controls: the PPMI study
Objective: To test the correlations between longitudinal measurements of glucocerebrosidase (GCase; encoded by GBA) enzymatic activity and Parkinson’s disease (PD) phenotype in the Parkinson’s Progression…Northwestern University Feinberg School of Medicine Parkinson’s disease and Movement Disorders Center Biorepository: bringing the clinic and lab together
Objective: To establish a biobank of DNA and tissue samples from a population of movement disorder patients, their family members and healthy controls recruited from…Association between SNCA and clinical phenotypes of Parkinson’s disease in southern Chinese
Objective: The aim was to investigate the association between SNCA and clinical phenotypes of Parkinson’s disease (PD) in southern Chinese. Background: SNCA gene plays an…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.