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…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…SNPs in SNCA, MCCC1, DLG2, GBF1, and MBNL2 are associated with Parkinson’s disease in southern Chinese populations
Objective: This study aimed to replicate the relationship between 12 novel SNPs of 12 genes and PD risk in southern Chinese populations. Background: Numerous single-nucleotide polymorphisms (SNPs), which have…POLR3A Leukodystrophy presenting with levodopa responsive parkinsonism
Objective: This is a case of a 51-year-old lady with POLR3A related leukodystrophy and secondary dopa responsive parkinsonism. Background: Neurologic symptoms began 15 years ago…APOE, TREM2 and LINGO1 genes: A possible implication in cognition in essential tremor in a Tunisian population
Objective: To investigate the effect of polymorphisms in APOE, TREM2 and LINGO1 genes on the cognitive profile of essential tremor(ET) in Tunisian population. Background: ET…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.