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…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…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…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…Incidence of essential tremor depending on gender, age and debut of the disease
Objective: To study the incidence of essential tremor depending on gender, age and debut of the disease in Uzbek nationality. Background: Clinical manifestation of essential…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.