Results 71 to 80 of about 43,444 (242)
Glucocerebrosidase involvement in Parkinson Disease and other Synucleinopathies
Frontiers in Neurology, 2012 Mutations in the both copies (homozygous or compound heterozygous) of the gene encoding the lysosomal enzyme glucocerebrosidase, which cleaves the glycolipid glucocerebroside into glucose and ceramide causes Gaucher Disease. However, multiple independent
Maria Rosario Almeida
doaj +1 more source
Orofacial Drinking Tremor: A Case Series and Literature Review
Movement Disorders Clinical Practice, EarlyView.Abstract Background Task‐specific orofacial tremor is a rare condition in which rhythmic oscillations of orofacial muscles occur during specific actions. Drinking tremor represents a recurrent pattern in isolated reports, although its phenomenology and underlying mechanisms remain incompletely defined.
Daniele Birreci +7 more
wiley +1 more source
Neuromodulation: Technology at the Neural Interface, EarlyView., 2021 Abstract Objective To evaluate the effects of bilateral caudal zona incerta (cZi) deep brain stimulation (DBS) for Parkinson's disease (PD) one year after surgery and to create anatomical improvement maps based on patient‐specific simulation of the electric field.
Rasmus Stenmark Persson +6 more
wiley +1 more source
Reduced Dopamine Transporter Uptake in Dentatorubral‐Pallidoluysian Atrophy
Movement Disorders Clinical Practice, EarlyView.
Kei Okuba +3 more
wiley +1 more source
Neuromodulation: Technology at the Neural Interface, EarlyView., 2021 Abstract Objective During the surgical procedure of deep brain stimulation (DBS), insertion of an electrode in the subthalamic nucleus (STN) frequently causes a temporary improvement of motor symptoms, known as the microlesion effect (MLE). The objective of this study was to determine the correlation between the intraoperative MLE and the clinical ...
Stèfan F. Lange +8 more
wiley +1 more source
Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background
BiomedicinesBackground/Objectives: Cognitive impairment often occurs in various parkinsonian syndromes. The course of deficits in cognitive functions ranges from mild cognitive decline to severe deterioration. Affected cognitive domains are also variable.
Christos Koros +4 more
doaj +1 more source
Movement Disorders in Developmental and Epileptic Encephalopathies
Movement Disorders Clinical Practice, EarlyView.Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad +2 more
wiley +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan +14 more
wiley +1 more source
Neuropsychiatric symptoms and PET imaging characteristics in patients with Parkinson-plus syndromes
Chinese Journal of Contemporary Neurology and Neurosurgery, 2017 Objective To explore the neuropsychiatric symptoms and 18F-fluoro-2-deoxy-D-glucose (18F-FDG) PET imaging features of Parkinson-plus syndromes. Methods There were 8 patients with probable Parkinson-plus syndromes, including one case of multiple ...
Miao ZHANG +4 more
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