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Functional movement disorders

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https://www.readbyqxmd.com/read/28815944/neonatal-fractures-as-a-presenting-feature-of-lmod3-associated-congenital-myopathy
#1
Megan Abbott, Mahim Jain, Rachel Pferdehirt, Yuqing Chen, Alyssa Tran, Mehmet B Duz, Mehmet Seven, Richard A Gibbs, Donna Muzny, Brendan Lee, Ronit Marom, Lindsay C Burrage
Nemaline myopathy is a rare inherited disorder characterized by weakness, hypotonia, and depressed deep tendon reflexes. It is clinically and genetically heterogeneous, with the most severe phenotype presenting as perinatal akinesia, severe muscle weakness, feeding difficulties and respiratory failure, leading to early mortality. Pathogenic variants in 12 genes, encoding components of the sarcomere or factors related to myogenesis, have been reported in patients affected with the disorder. Here, we describe an early, lethal presentation of decreased fetal movements, hypotonia, muscle weakness, and neonatal respiratory failure requiring ventilator support in three siblings from a consanguineous family...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28813945/towards-a-situation-and-user-aware-multi-modal-motorized-toilet-system-to-assist-older-adults-with-disabilities-a-user-requirements-study
#2
T Pilissy, A Toth, G Fazekas, A Sobjak, R Rosenthal, T Luftenegger, P Panek, P Mayer
In the recent decades state of the art technologies appeared in many areas to assist older adults with disabilities. However, one very essential activity of daily life, the toileting remained without any relevant development. The iToilet project of the European Union focuses on the development of an intelligent and motorized toilet system to enable independent toilet use for older adults with disabilities. To begin the development, the user requirements of end-users were assessed by means of focus group interviews and questionnaires...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813887/the-effects-of-age-and-amplitude-on-wrist-proprioceptive-acuity
#3
Francesca Marini, Charmayne M L Hughes, Pietro Morasso, Lorenzo Masia
This study examined wrist proprioception in a cross-sectional sample of 44 children aged between 8-to 14-years and a control group of 10 neurologically and physically healthy adults. Using a 3-degrees of freedom robotic device, participants performed an ipsilateral joint position matching task in which target amplitude (40% or 80% functional range of motion [fRoM]) and degrees-of-freedom (Flexion/Extension [FE], Radial/Ulnar deviation [RUD], Pronation/Supination [PS]) were manipulated. Results indicated that proprioceptive function became more accurate and consistent over the developmental spectrum, but that the ability to utilize proprioceptive feedback did not reach adult levels till the age of 10-11 years...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28812061/behavioral-comorbidities-and-drug-treatments-in-a-zebrafish-scn1lab-model-of-dravet-syndrome
#4
Brian P Grone, Tiange Qu, Scott C Baraban
Loss-of-function mutations in SCN1A cause Dravet syndrome (DS), a catastrophic childhood epilepsy in which patients experience comorbid behavioral conditions, including movement disorders, sleep abnormalities, anxiety, and intellectual disability. To study the functional consequences of voltage-gated sodium channel mutations, we use zebrafish with a loss-of-function mutation in scn1lab, a zebrafish homolog of human SCN1A. Homozygous scn1lab(s552/s552) mutants exhibit early-life seizures, metabolic deficits, and early death...
July 2017: ENeuro
https://www.readbyqxmd.com/read/28809834/quantifying-infra-slow-dynamics-of-spectral-power-and-heart-rate-in-sleeping-mice
#5
Laura M J Fernandez, Sandro Lecci, Romain Cardis, Gil Vantomme, Elidie Béard, Anita Lüthi
Three vigilance states dominate mammalian life: wakefulness, non-rapid eye movement (non-REM) sleep, and REM sleep. As more neural correlates of behavior are identified in freely moving animals, this three-fold subdivision becomes too simplistic. During wakefulness, ensembles of global and local cortical activities, together with peripheral parameters such as pupillary diameter and sympathovagal balance, define various degrees of arousal. It remains unclear the extent to which sleep also forms a continuum of brain states-within which the degree of resilience to sensory stimuli and arousability, and perhaps other sleep functions, vary gradually-and how peripheral physiological states co-vary...
August 2, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28801915/manganese-and-1-methyl-4-phenylpyridinium-mpp-induced-neurotoxicity-indicate-differences-in-morphological-electrophysiological-and-genome-wide-alterations-implications-for-idiopathic-parkinson-s-disease
#6
Rajeswara Babu Mythri, Narayana Reddy Raghunath, Santosh Chandrakant Narwade, Mirazkar DasharathaRao Pandareesh, Kollarkandi Rajesh Sabitha, Mohamad Aiyaz, Bipin Chand, Manas Sule, Krittika Ghosh, Senthil Kumar, Bhagyalakshmi Shankarappa, Soundarya Soundararajan, Phalguni Anand Alladi, Meera Purushottam, Narayanappa Gayathri, Deepti Dileep Deobagkar, Thenkanidiyoor Rao Laxmi, Srinivas Bharath Muchukunte Mukunda
Idiopathic Parkinson's disease (iPD) and manganese-induced atypical Parkinsonism are characterized by movement disorder and nigrostriatal pathology. Although clinical features, brain region involved and responsiveness to levodopa distinguish both, differences at the neuronal level are largely unknown. We studied the morphological, neurophysiological and molecular differences in dopaminergic neurons exposed to the PD toxin 1-methyl-4-phenylpyridinium ion (MPP(+) ) and manganese (Mn) followed by validation in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) and Mn mouse models...
August 12, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28782830/altered-behavioral-responses-to-gamma-aminobutyric-acid-pharmacological-agents-in-a-mouse-model-of-huntington-s-disease
#7
Yi-Ting Hsu, Ya-Gin Chang, Ching-Pang Chang, Jian-Jing Siew, Hui-Mei Chen, Chon-Haw Tsai, Yijuang Chern
BACKGROUND: Disruptions in gamma-aminobutyric (GABA) acid signaling are believed to be involved in Huntington's disease pathogenesis, but the regulation of GABAergic signaling remains elusive. Here we evaluated GABAergic signaling by examining the function of GABAergic drugs in Huntington's disease and the expression of GABAergic molecules using mouse models and human brain tissues from Huntington's disease. METHODS: We treated wild-type and R6/2 mice (a transgenic Huntington's disease mouse model) acutely with vehicle, diazepam, or gaboxadol (drugs that selectively target synaptic or extrasynaptic GABAA receptors) and monitored their locomotor activity...
August 7, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28782543/the-active-construction-of-the-visual-world
#8
REVIEW
Thomas Parr, Karl J Friston
What we see is fundamentally dependent on where we look. Despite this seemingly obvious statement, many accounts of the neurobiology underpinning visual perception fail to consider the active nature of how we sample our sensory world. This review offers an overview of the neurobiology of visual perception, which begins with the control of saccadic eye movements. Starting from here, we can follow the anatomy backwards, to try to understand the functional architecture of neuronal networks that support the interrogation of a visual scene...
August 3, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28780312/losing-ground-frontostriatal-atrophy-disrupts-language-embodiment-in-parkinson-s-and-huntington-s-disease
#9
REVIEW
Agustina Birba, Indira García-Cordero, Giselle Kozono, Agustina Legaz, Agustín Ibáñez, Lucas Sedeño, Adolfo M García
Within the language domain, movement disorders triggered by frontostriatal damage are characterized by deficits in action verbs, motor-language coupling, and syntax. However, these impairments have not been jointly interpreted under a unifying rationale or integratively assessed in terms of possible clinical implications. To bridge these gaps, here we introduce the "disrupted motor grounding hypothesis", a new framework to conceive such impairments as disturbances of embodied mechanisms (high-order domains based on the recycling of functionally germane sensorimotor circuits)...
August 2, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28780279/personality-disorders-and-somatization-in-functional-and-organic-movement-disorders
#10
Giovanni Defazio, Adriana Pastore, Roberta Pellicciari, Grazia Pierri, Angelo F Gigante, Giada Fabio, Maria Superbo, Francesco Margari
Psychiatric disturbances and somatizations are both criteria which support the diagnosis of functional movement disorders. It is unclear, however, whether these factors are helpful in differentiating functional and organic movement disorders. To address this issue, the Structured Clinical Interview for DSM-IV Axis I and II psychiatric disorders, the State-Trait Anxiety Inventory, the Beck Depression Inventory and the "somatization section" of the Dissociative Disorders Interview Schedule were administered to 31 functional movement disorder patients diagnosed, according to Fahn and Williams criteria and 31 sex- and age-matched control outpatients, with adult-onset dystonia...
July 31, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28777757/gba-associated-parkinson-s-disease-progression-in-a-deep-brain-stimulation-cohort
#11
Vanessa Lythe, Dilan Athauda, Jennifer Foley, Niccolò E Mencacci, Marjan Jahanshahi, Lisa Cipolotti, Jonathan Hyam, Ludvic Zrinzo, Marwan Hariz, John Hardy, Patricia Limousin, Tom Foltynie
BACKGROUND: Recent evidence suggests that glucosidase beta acid (GBA) mutations predispose Parkinson's disease (PD) patients to a greater burden of cognitive impairment and non-motor symptoms. This emerging knowledge has not yet been considered in patients who have undergone deep brain stimulation (DBS); a surgery that is generally contraindicated in those with cognitive deficits. OBJECTIVE: To explore the long-term phenotypic progression of GBA-associated PD, in a DBS cohort...
August 4, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28777755/ads-5102-amantadine-extended-release-capsules-for-levodopa-induced-dyskinesia-in-parkinson-s-disease-ease-lid-2-study-interim-results-of-an-open-label-safety-study
#12
Robert A Hauser, Rajesh Pahwa, Caroline M Tanner, Wolfgang Oertel, Stuart H Isaacson, Reed Johnson, Larissa Felt, Mary Jean Stempien
BACKGROUND: Medical treatment of levodopa-induced dyskinesia (LID) in Parkinson's disease (PD) is an unmet need. ADS-5102 (amantadine) extended-release capsules is being developed for the treatment of LID in patients with PD. OBJECTIVE: Evaluate the long-term safety and tolerability of 274 mg ADS-5102 for LID in PD. METHODS: In an ongoing, open-label safety study (NCT02202551), PD patients with LID received 274 mg of ADS-5102 once daily at bedtime...
2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28777180/sleep-wake-disorders-of-childhood
#13
Suresh Kotagal
PURPOSE OF REVIEW: Sleep-wake disorders occur in 10% to 28% of children and differ somewhat in pathophysiology and management from sleep-wake disorders in adults. This article discusses the diagnosis and management of key childhood sleep disorders. RECENT FINDINGS: The role of sleep in memory consolidation and in the facilitation of learning has been increasingly recognized, even at the toddler stage. Cataplexy, a key feature of narcolepsy type 1, may be subtle in childhood and characterized by transient muscle weakness isolated to the face...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28777179/comorbid-sleep-disturbances-in-neurologic-disorders
#14
Yo-El S Ju, Aleksandar Videnovic, Bradley V Vaughn
PURPOSE OF REVIEW: This article provides a review of disturbances of sleep comorbid with common neurologic disorders. RECENT FINDINGS: A wide variety of neurologic disorders are frequently complicated by comorbid sleep disturbances. In many cases, a bidirectional relationship appears to occur between sleep function and the neurologic disease, such that treatment of comorbid sleep disturbances may improve the symptoms of the neurologic disease. SUMMARY: Neurologic disorders are often associated with abnormalities of sleep...
August 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28772097/what-have-we-learned-about-movement-disorders-from-functional-neurosurgery
#15
Andres M Lozano, William D Hutchison, Suneil K Kalia
Modern functional neurosurgery for movement disorders such as Parkinson's disease, tremor, and dystonia involves the placement of focal lesions or the application of deep brain stimulation (DBS) within circuits that modulate motor function. Precise targeting of these motor structures can be further refined by the use of electrophysiological approaches. In particular, microelectrode recordings enable the delineation of neuroanatomic structures. In the course of these operations, there is an opportunity not only to map basal ganglia structures but also to gain insights into how disturbances in neural activity produce movement disorders...
July 25, 2017: Annual Review of Neuroscience
https://www.readbyqxmd.com/read/28769869/impact-of-transcranial-magnetic-stimulation-on-functional-movement-disorders-cortical-modulation-or-a-behavioral-effect
#16
Béatrice Garcin, Francine Mesrati, Cécile Hubsch, Thomas Mauras, Iulia Iliescu, Lionel Naccache, Marie Vidailhet, Emmanuel Roze, Bertrand Degos
INTRODUCTION: Recent studies suggest that repeated transcranial magnetic stimulation (TMS) improves functional movement disorders (FMDs), but the underlying mechanisms are unclear. The objective was to determine whether the beneficial action of TMS in patients with FMDs is due to cortical neuromodulation or rather to a cognitive-behavioral effect. METHOD: Consecutive patients with FMDs underwent repeated low-frequency (0.25 Hz) magnetic stimulation over the cortex contralateral to the symptoms or over the spinal roots [root magnetic stimulation (RMS)] homolateral to the symptoms...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28768697/a-novel-high-throughput-yeast-genetic-screen-for-factors-modifying-protein-levels-of-the-early-onset-torsion-dystonia-associated-variant-torsina%C3%AE-e
#17
Lucía F Zacchi, John C Dittmar, Michael J Mihalevic, Annette M Shewan, Benjamin L Schulz, Jeffrey L Brodsky, Kara A Bernstein
Dystonia is the third most common movement disorder, but its diagnosis and treatment remain challenging. One of the most severe types of Dystonia is Early-Onset Torsion Dystonia (EOTD). The best studied and validated EOTD-associated mutation, torsinAΔE, is a deletion of a C-terminal glutamate residue in the AAA+ ATPase, torsinA. TorsinA appears to be an Endoplasmic Reticulum (ER)/Nuclear Envelope chaperone with multiple roles in the secretory pathway and in determining subcellular architecture. Many functions are disabled in the torsinAΔE variant, and torsinAΔE is also less stable than wild-type torsinA and is a substrate for ER-associated degradation...
August 2, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28768356/-singultus-diagnostic-workup-and-therapy
#18
Ohlrich Marcus, Georg Royl
A hiccup is a reflex movement with diffusely distributed afferents and efferents in the thorax; its functional relevance is controversial. In its physiological form, it is mostly a minor complaint that stops spontaneously and rarely leads to medical consultation. However, prolonged agonizing hiccups represent serious deterioration of quality of life. Chronic hiccups by definition last for more than 48 h, with gastroesophageal reflux being the frequent underlying disease. Various other causes affect multiple organ systems, some with serious underlying diseases...
July 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28768155/the-role-of-the-intrinsic-cholinergic-system-of-the-striatum-what-have-we-learned-from-tan-recordings-in-behaving-animals
#19
REVIEW
Paul Apicella
Cholinergic interneurons provide rich local innervation of the striatum and play an important role in controlling behavior, as evidenced by the variety of movement and psychiatric disorders linked to disrupted striatal cholinergic transmission. Much progress has been made in recent years regarding our understanding of how these interneurons contribute to the processing of information in the striatum. In particular, investigation of the activity of presumed striatal cholinergic interneurons, identified as tonically active neurons or TANs in behaving animals, has pointed to their role in the signaling and learning of the motivational relevance of environmental stimuli...
July 30, 2017: Neuroscience
https://www.readbyqxmd.com/read/28762056/functional-brain-effects-of-hand-disuse-in-patients-with-trapeziometacarpal-joint-osteoarthritis-executed-and-imagined-movements
#20
Martina Gandola, Maurilio Bruno, Laura Zapparoli, Gianluca Saetta, Elena Rolandi, Antonio De Santis, Giuseppe Banfi, Alberto Zerbi, Valerio Sansone, Eraldo Paulesu
The human trapeziometacarpal (TMC) joint has a crucial evolutionary importance as it permits rotation and opposition of the thumb to the other fingers. In chronic TMC joint osteoarthritis (i.e., rhizarthrosis), this motor ability, essential for pinching, grasping, and manipulating objects, may become difficult or impossible due to intolerable pain. Here, we assess whether patients with rhizarthrosis show signs of abnormal brain representation of hand movements. To this end, we studied 35 patients with rhizarthrosis, affecting predominantly one of the two hands, and 35 healthy subjects who underwent both behavioural and fMRI measures of brain activity during overtly executed or imagined thumb-to-finger-opposition movements...
July 31, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
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