No pathogenic mutations in HPCA in Chinese dystonia patients
Objective: To explore the frequency and spectrum of HPCA mutation in Chinese subjects with dystonia. Background: Dystonia is known as a group of clinically and etiologically…Writer’s Cramp Dystonia during increasingly complex motor task: analysis of behavior and task fMRI
Objective: To evaluate the relationship between clinical features of dystonia and striatal BOLD activity. Background: Dystonia is a brain disorder which causes involuntary twisting movements, abnormal…Stimulation induced dystypia after pallidal deep brain stimulation
Objective: _ Background: Typing on a keyboard requires complex collaboration between visuospatial procedural memory, language and motor function [1,2]. The impaired ability to type, independent…Weeding Through the Haze: A Survey on Cannabis Use Among People with Parkinson’s Disease
Objective: To identify themes in cannabis use among people with Parkinson’s disease to inform medical recommendations and the design of future clinical trials. Background: Parkinson’s…Association of environmental exposure to herbicides, fungicides, and insecticides used in agriculture with incidence of Parkinson’s disease in the French general population
Objective: To examine the association of exposure to categories of pesticides (H-I-F) with PD incidence in the French general population. Background: Environmental exposure to pesticides…A Korean first case of Boucher-Neuhäuser syndrome with two novel mutations of PNPLA6 gene
Objective: To report a patient who presented with hypogonadotropic hypogonadism, chorioretinal dystrophy, and cerebellar ataxia. He has 2 missense variant mutations of PNPLA6. Background: Boucher-Neuhäuser…Longitudinal Utility of the Montreal Cognitive Assessment and Mini Mental State Exam in Huntington’s disease (HD)
Objective: Neuropsychological assessments are useful tools for examining and tracking cognitive impairment in individuals with neurological disorders; however, a full neuropsychological battery is not realistic…The genetic study of hereditary chorea in Kazakhstan
Objective: To analyze the genetic background of hereditary chorea in Kazakhstani population. Background: Hereditary chorea (HC) is a group of inherited movement disorders presenting with…Biological and Clinical Manifestations of Huntington’s disease in Gene Carriers Very Far from Predicted Onset: The Young Adult Study
Objective: To perform a deep phenotyping of a Huntington’s Disease (HD) cohort further from onset than previously studied to establish when disease related markers first…MRI findings in a 65-year old female with movement disorder
Objective: We reported a 65-year-old woman presented with dysarthria, chorea, facial and neck dystonia. Background: Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration,…
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