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https://www.readbyqxmd.com/read/29151060/genetics-of-parkinson-s-disease-and-related-disorders
#1
REVIEW
Pei-Lan Zhang, Yan Chen, Chen-Hao Zhang, Yu-Xin Wang, Pedro Fernandez-Funez
Parkinson's disease (PD) is a complex and heterogeneous neurological condition characterised mainly by bradykinesia, resting tremor, rigidity and postural instability, symptoms that together comprise the parkinsonian syndrome. Non-motor symptoms preceding and following clinical onset are also helpful diagnostic markers revealing a widespread and progressive pathology. Many other neurological conditions also include parkinsonism as primary or secondary symptom, confounding their diagnosis and treatment. Although overall disease course and end-stage pathological examination single out these conditions, the significant overlaps suggest that they are part of a continuous disease spectrum...
November 18, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29124784/dysfunction-in-emotion-processing-underlies-functional-psychogenic-dystonia
#2
Alberto J Espay, Thomas Maloney, Jennifer Vannest, Matthew M Norris, James C Eliassen, Erin Neefus, Jane B Allendorfer, Robert Chen, Jerzy P Szaflarski
OBJECTIVE: We sought to determine whether abnormalities in emotion processing underlie functional (psychogenic) dystonia, one of the most common functional movement disorders. METHODS: Motor and emotion circuits were examined in 12 participants with functional dystonia, 12 with primary organic dystonia, and 25 healthy controls using functional magnetic resonance imaging at 4T and a finger-tapping task (motor task), a basic emotion-recognition task (emotional faces task), and an intense-emotion stimuli task...
November 10, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29119634/the-cerebral-basis-of-parkinsonian-tremor-a-network-perspective
#3
Rick C Helmich
Tremor in Parkinson's disease is a poorly understood sign. Although it is one of the clinical hallmarks of the disease, its pathophysiology remains unclear. It is clear that tremor involves different neural mechanisms than bradykinesia and rigidity, the other core motor signs of Parkinson's disease. In particular, the role of dopamine in tremor has been heavily debated given clinical observations that tremor has a variable response to dopaminergic medication. From a neuroscience perspective, tremor is also a special sign; unlike other motor signs, it has a clear electrophysiological signature (frequency, phase, and power)...
November 9, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29115280/real-time-cerebellar-neuroprosthetic-system-based-on-a-spiking-neural-network-model-of-motor-learning
#4
Tao Xu, Na Xiao, Xiaolong Zhai, Pak Kwan Chan, Chung Tin
Damage to the brain, as a result of various medical conditions, impacts everyday life of patients and there is still no complete cure to neurological disorders. Neuroprostheses that can functionally replace the damaged neural circuit have recently emerged as a possible solution to these problems. Here we describe the development of a real-time cerebellar neuroprosthetic system to substitute neural function in cerebellar circuitry for learning delay eyeblink conditioning (DEC). Approach: The system was empowered by a biologically realistic spiking neural network (SNN) model of the cerebellar neural circuit, which considers the neuronal population and anatomical connectivity of the network...
November 8, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/29099407/ocular-motor-dysfunction-due-to-brainstem-disorders
#5
Seung-Han Lee, Hyo-Jung Kim, Ji-Soo Kim
BACKGROUND: The brainstem contains numerous structures including afferent and efferent fibers that are involved in generation and control of eye movements. EVIDENCE ACQUISITION: These structures give rise to distinct patterns of abnormal eye movements when damaged. Defining these ocular motor abnormalities allows a topographic diagnosis of a lesion within the brainstem. RESULTS: Although diverse patterns of impaired eye movements may be observed in lesions of the brainstem, medullary lesions primarily cause various patterns of nystagmus and impaired vestibular eye movements without obvious ophthalmoplegia...
November 2, 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29079343/from-meaning-to-categorization-the-hierarchical-recruitment-of-brain-circuits-selective-for-action-verbs
#6
Riccardo Dalla Volta, Pietro Avanzini, Doriana De Marco, Maurizio Gentilucci, Maddalena Fabbri-Destro
Sensorimotor and affective brain systems are known to be involved in language processing. However, to date it is still debated whether this involvement is a crucial step of semantic processing or, on the contrary, it is dependent on the specific context or strategy adopted to solve a task at hand. The present electroencephalographic (EEG) study is aimed at investigating which brain circuits are engaged when processing written verbs. By aligning event-related potentials (ERPs) both to the verb onset and to the motor response indexing the accomplishment of a semantic task of categorization, we were able to dissociate the relative stimulus-related and response-related cognitive components at play, respectively...
October 3, 2017: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29074330/motor-dysfunction-as-an-intermediate-phenotype-across-schizophrenia-and-other-psychotic-disorders-progress-and-perspectives
#7
Dusan Hirjak, Katharina M Kubera, Philipp A Thomann, Robert C Wolf
Primary motor abnormalities (PMA), as found in patients with schizophrenia, are quantitatively and qualitatively distinct markers of motor system abnormalities. PMA have been often referred to phenomena that are present across schizophrenia-spectrum disorders. A dysfunction of frontoparietal and subcortical networks has been proposed as core pathophysiological mechanism underlying the expression of PMA. However, it is unclear at present if such mechanisms are a common within schizophrenia and other psychotic disorders...
October 23, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/29065207/cerebellar-gray-matter-reductions-associate-with-decreased-functional-connectivity-in-nicotine-dependent-individuals
#8
Zhujing Shen, Peiyu Huang, Chao Wang, Wei Qian, Yihong Yang, Minming Zhang
Introduction: Nicotine dependence (ND) is a chronic, relapsing mental disorder characterized by compulsive cigarette seeking and smoking. Although the cerebellum plays an increasingly implicated role in ND, the exact cerebellar alterations in ND remain unclear. Identifying the localization of these cerebellar abnormalities in ND may help to further understand the role of the cerebellum in ND. Thus, we investigated the structural and functional alterations in the cerebellum in a large sample of smokers using the spatially unbiased infratentorial template (SUIT)...
July 27, 2017: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
https://www.readbyqxmd.com/read/29053770/tourette-syndrome-a-disorder-of-the-social-decision-making-network
#9
Roger L Albin
Tourette syndrome is a common neurodevelopmental disorder defined by characteristic involuntary movements, tics, with both motor and phonic components. Tourette syndrome is usually conceptualized as a basal ganglia disorder, with an emphasis on striatal dysfunction. While considerable evidence is consistent with these concepts, imaging data suggest diffuse functional and structural abnormalities in Tourette syndrome brain. Tourette syndrome exhibits features that are difficult to explain solely based on basal ganglia circuit dysfunctions...
August 22, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050641/white-matter-pathways-in-persistent-developmental-stuttering-lessons-from-tractography
#10
Vered Kronfeld-Duenias, Oren Civier, Ofer Amir, Ruth Ezrati-Vinacour, Michal Ben-Shachar
PURPOSE: Fluent speech production relies on the coordinated processing of multiple brain regions. This highlights the role of neural pathways that connect distinct brain regions in producing fluent speech. Here, we aim to investigate the role of the white matter pathways in persistent developmental stuttering (PDS), where speech fluency is disrupted. METHODS: We use diffusion weighted imaging and tractography to compare the white matter properties between adults who do and do not stutter...
September 13, 2017: Journal of Fluency Disorders
https://www.readbyqxmd.com/read/29035887/valeriana-officinalis-root-extract-modulates-cortical-excitatory-circuits-in-humans
#11
Ludovico Mineo, Carmen Concerto, Dhaval Patel, Tyrone Mayorga, Michael Paula, Eileen Chusid, Eugenio Aguglia, Fortunato Battaglia
BACKGROUND: Valeriana officinalis extract (VE) is a popular herbal medicine used for the treatment of anxiety and sleep disorders. Although the anxiolytic and sedative effects are mainly attributed to the modulation of GABA-ergic transmission, the mechanism of action has not been fully investigated in humans. Noninvasive brain stimulation protocols can be used to elucidate the mechanisms of action of psychoactive substances at the cortical level in humans. In this study, we investigated the effects of a single dose of VE on cortical excitability as assessed with transcranial magnetic stimulation (TMS)...
October 17, 2017: Neuropsychobiology
https://www.readbyqxmd.com/read/29033857/an-update-overview-on-brain-imaging-studies-of-internet-gaming-disorder
#12
REVIEW
Aviv M Weinstein
There are a growing number of studies on structural and functional brain mechanisms underlying Internet gaming disorder (IGD). Recent functional magnetic resonance imaging studies showed that IGD adolescents and adults had reduced gray matter volume in regions associated with attention motor coordination executive function and perception. Adolescents with IGD showed lower white matter (WM) integrity measures in several brain regions that are involved in decision-making, behavioral inhibition, and emotional regulation...
2017: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29018335/a-connectomic-analysis-of-the-human-basal-ganglia-network
#13
Alberto Cacciola, Alessandro Calamuneri, Demetrio Milardi, Enricomaria Mormina, Gaetana Chillemi, Silvia Marino, Antonino Naro, Giuseppina Rizzo, Giuseppe Anastasi, Angelo Quartarone
The current model of basal ganglia circuits has been introduced almost two decades ago and has settled the basis for our understanding of basal ganglia physiology and movement disorders. Although many questions are yet to be answered, several efforts have been recently made to shed new light on basal ganglia function. The traditional concept of "direct" and "indirect" pathways, obtained from axonal tracing studies in non-human primates and post-mortem fiber dissection in the human brain, still retains a remarkable appeal but is somehow obsolete...
2017: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29016850/mice-lacking-cyclin-dependent-kinase-like-5-manifest-autistic-and-adhd-like-behaviors
#14
Cian-Ling Jhang, Tzyy-Nan Huang, Yi-Ping Hsueh, Wenlin Liao
Neurodevelopmental disorders frequently share common clinical features and appear high rate of comorbidity, such as those present in patients with attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASD). While characterizing behavioral phenotypes in the mouse model of cyclin-dependent kinase-like 5 (CDKL5) disorder, a neurodevelopmental disorder caused by mutations in the X-linked gene encoding CDKL5, we found that these mice manifested behavioral phenotypes mimicking multiple key features of ASD, such as impaired social interaction and communication, as well as increased stereotypic digging behaviors...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28992533/neural-correlates-of-affective-and-non-affective-cognition-in-obsessive-compulsive-disorder-a-meta-analysis-of-functional-imaging-studies
#15
A Rasgon, W H Lee, E Leibu, A Laird, D Glahn, W Goodman, S Frangou
Obsessive compulsive disorder (OCD) is characterized by intrusive thoughts and repetitive ritualistic behaviors and has been associated with diverse functional brain abnormalities. We sought to synthesize current evidence from functional magnetic resonance imaging (fMRI) studies and examine their alignment to pathogenetic models of OCD. Following systematic review, we identified 54 task-fMRI studies published in the last decade comparing adults with OCD (n=1186) to healthy adults (n=1159) using tasks of affective and non-affective cognition...
September 1, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28990240/reduced-striato-cortical-and-inhibitory-transcallosal-connectivity-in-the-motor-circuit-of-huntington-s-disease-patients
#16
Clara Garcia-Gorro, Ruth de Diego-Balaguer, Saul Martínez-Horta, Jesus Pérez-Pérez, Jaime Kulisevsky, Nadia Rodríguez-Dechicha, Irene Vaquer, Susana Subira, Matilde Calopa, Esteban Muñoz, Pilar Santacruz, Jesús Ruiz-Idiago, Celia Mareca, Nuria Caballol, Estela Camara
Huntington's disease (HD) is a neurodegenerative disorder which is primarily associated with striatal degeneration. However, the alterations in connectivity of this structure in HD have been underinvestigated. In this study, we analyzed the functional and structural connectivity of the left putamen, while participants performed a finger-tapping task. Using fMRI and DW-MRI, 30 HD gene expansion carriers (HDGEC) and 29 healthy participants were scanned. Psychophysiological interaction analysis and DTI-based tractography were employed to examine functional and structural connectivity, respectively...
October 8, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28988022/white-matter-and-schizophrenia-a-meta-analysis-of-voxel-based-morphometry-and-diffusion-tensor-imaging-studies
#17
Enrico Vitolo, Mona Karina Tatu, Claudia Pignolo, Franco Cauda, Tommaso Costa, Agata Ando', Alessandro Zennaro
Voxel-based morphometry (VBM) and diffusion tensor imaging (DTI) are the most implemented methodologies to detect alterations of both gray and white matter (WM). However, the role of WM in mental disorders is still not well defined. We aimed at clarifying the role of WM disruption in schizophrenia and at identifying the most frequently involved brain networks. A systematic literature search was conducted to identify VBM and DTI studies focusing on WM alterations in patients with schizophrenia compared to control subjects...
December 30, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28976945/activation-of-nigrostriatal-dopamine-neurons-during-fear-extinction-prevents-the-renewal-of-fear
#18
Courtney A Bouchet, Megan A Miner, Esteban C Loetz, Adam J Rosberg, Holly S Hake, Caroline E Farmer, Mykola Ostrovskyy, Nathan Gray, Benjamin N Greenwood
Manipulations that increase dopamine (DA) signaling can enhance fear extinction, but the circuits involved remain unknown. DA neurons originating in the substantia nigra (SN) projecting to the dorsal striatum (DS) are traditionally viewed in the context of motor behavior, but growing data implicate this nigrostriatal circuit in emotion. Here we investigated the role of nigrostriatal DA in fear extinction. Activation of SN DA neurons with designer Gq-coupled receptors exclusively activated by designer drugs (Gq-DREADD) during fear extinction had no effect on fear extinction acquisition, but enhanced fear extinction memory and blocked the renewal of fear in a novel context; a pattern of data paralleled by cFos expression in the central amygdala...
October 4, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28956336/regulation-of-striatal-neuron-activity-by-cyclic-nucleotide-signaling-and-phosphodiesterase-inhibition-implications-for-the-treatment-of-parkinson-s-disease
#19
Fernando E Padovan-Neto, Anthony R West
Cyclic nucleotide phosphodiesterase (PDE) enzymes catalyze the hydrolysis and inactivation of cyclic nucleotides (cAMP/cGMP) in the brain. Several classes of PDE enzymes with distinct tissue distributions, cyclic nucleotide selectivity, and regulatory factors are highly expressed in brain regions subserving cognitive and motor processes known to be disrupted in neurodegenerative diseases such as Parkinson's disease (PD). Furthermore, small-molecule inhibitors of several different PDE family members alter cyclic nucleotide levels and favorably enhance motor performance and cognition in animal disease models...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28944096/sensory-motor-and-intrinsic-mechanisms-of-thalamic-activity-related-to-organic-and-psychogenic-dystonia
#20
K Kobayashi, J H Chien, J H Kim, F A Lenz
The thalamus is a critical module in the circuit which has been associated with movement disorders including dystonia. This circuit extends from cortex to striatum to pallidum to the thalamic nucleus Ventral Lateral anterior (VLa) to cortex and can be studied by activity recorded during thalamic stereotactic surgery for the treatment of dystonia. Neuronal recordings in the VLa nucleus show low frequency modulation of firing that is correlated with and leads the low frequency modulation of EMG activity; this EMG activity is characteristic of dystonia...
June 2017: Journal of Alzheimer's Disease and Parkinsonism
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