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Article
Open AccessVariants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly
Microtubule associated proteins (MAPs) are widely expressed in the central nervous system, and have established roles in cell proliferation, myelination, neurite formation, axon specification, outgrowth, dendr...
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Article
Open AccessDystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients
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Article
Open AccessCHD8-related disorders redefined: an expanding spectrum of dystonic phenotypes
Heterozygous loss-of-function variants in CHD8 have been associated with a syndromic neurodevelopmental-disease spectrum, collectively referred to as CHD8-related neurodevelopmental disorders. Several different c...
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Article
Open AccessDirected functional connectivity of the default-mode-network of young and older healthy subjects
Alterations in the default mode network (DMN) are associated with aging. We assessed age-dependent changes of DMN interactions and correlations with a battery of neuropsychological tests, to understand the dif...
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Article
Open AccessCortical and subcortical morphometric changes and their relation to cognitive impairment in isolated REM sleep behavior disorder
To date, very few studies have focused on structural changes and their association with cognitive performance in isolated REM sleep behaviour disorder (iRBD). Moreover, the results of these studies are inconcl...
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Article
Open AccessLevodopa–carbidopa intestinal gel in advanced Parkinson’s disease: long-term results from COSMOS
While immediate benefits of levodopa–carbidopa intestinal gel (LCIG) are evident in patients with Parkinson’s disease (PD), long-term LCIG effects require further study.
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Article
Correction to: Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant
The affiliation of author Robert Jech was incorrectly indicated in the originally published version of this paper.
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Article
Trisomy X syndrome with dystonia and a pathogenic SATB1 variant
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Article
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome
SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organizat...
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Article
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant
Intragenic rearrangements and sequence variants in the calmodulin-binding transcription activator 1 gene (CAMTA1) can result in a spectrum of clinical presentations, most notably congenital ataxia with or without...
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Article
Validation of the Freezing of Gait Questionnaire in patients with Parkinson’s disease treated with deep brain stimulation
The Freezing of Gait Questionnaire (FoG-Q) is a fast and sensitive assessment tool for freezing (FoG).
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Article
Open AccessTopography of emotional valence and arousal within the motor part of the subthalamic nucleus in Parkinson’s disease
Clinical motor and non-motor effects of deep brain stimulation (DBS) of the subthalamic nucleus (STN) in Parkinson's disease (PD) seem to depend on the stimulation site within the STN. We analysed the effects ...
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Article
Clinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder with a progressive clinical course. In addition to symptomatic therapy, DBS has been increasingly recognized as a ...
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Article
Effect of pallidal deep-brain stimulation on articulation rate in dystonia
Pallidal deep-brain stimulation of the internal globus pallidus (GPi-DBS) is an effective treatment for dystonia. However, GPi-DBS may cause important stimulation-induced side effects such as hypokinetic dysar...
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Article
Open AccessModulatory Effects of Levodopa on Cerebellar Connectivity in Parkinson’s Disease
Levodopa has been the mainstay of symptomatic therapy for Parkinson’s disease (PD) for the last five decades. However, it is associated with the development of motor fluctuations and dyskinesia, in particular ...
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Chapter and Conference Paper
Automated Atlas Fitting for Deep Brain Stimulation Surgery Based on Microelectrode Neuronal Recordings
Introduction: The deep brain stimulation (DBS) is a treatment technique for late-stage Parkinson’s disease (PD), based on chronic electrical stimulation of neural tissue through implanted electrodes. To achiev...
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Article
Open AccessBenefits of pallidal stimulation in dystonia are linked to cerebellar volume and cortical inhibition
Clinical benefits of pallidal deep brain stimulation (GPi DBS) in dystonia increase relatively slowly suggesting slow plastic processes in the motor network. Twenty-two patients with dystonia of various distri...
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Article
Open AccessUnraveling connectivity changes due to dopaminergic therapy in chronically treated Parkinson’s disease patients
The effects of dopaminergic therapy for Parkinson’s disease (PD) on the brain functional architecture are still unclear. We investigated this topic in 31 PD patients (disease duration: 11.2 ± (SD) 3.6 years) w...
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Chapter and Conference Paper
Fusion of Microelectrode Neuronal Recordings and MRI Landmarks for Automatic Atlas Fitting in Deep Brain Stimulation Surgery
The deep brain stimulation (DBS) is a symptomatic treatment technique used mainly for movement disorders, consisting of chronic electrical stimulation of subcortical structures. To achieve very precise electro...
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Article
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing
Combined and complex dystonias are heterogeneous movement disorders combining dystonia with other motor and/or systemic signs. Although we are beginning to understand the diverse molecular causes of these dise...
