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Dystonia Pathophysiology: A Critical Review [chapter]

Pierre Burbaud
2012 Dystonia - The Many Facets  
Diffusion-weighted imaging (DWI) is sensitive to the random motion of water molecules and provide an estimate of the micro-structural integrity of the brain parenchyma and the directionality of molecular  ...  Neuronal networks (imaging data) Most of structural MRIs studies failed to show robust evidence of neural degeneration in patients with primary dystonia (130) although subtle grey and white matter micro-structural  ... 
doi:10.5772/30295 fatcat:roelti3tf5fafggmxzefno4hje

An Unusual Cause of Dementia: Essential Diagnostic Elements of Corticobasal Degeneration—A Case Report and Review of the Literature

F. Mastrolilli, A. Benvenga, L. Di Biase, F. Giambattistelli, L. Trotta, G. Salomone, L. Quintiliani, D. Landi, J. M. Melgari, F. Vernieri
2011 International Journal of Alzheimer's Disease  
Brain MRI showed asymmetric cortical atrophy in the right frontotemporal cortex.  ...  This case demonstrates that association of asymmetrical focal cortical and subcortical features remains the clinical hallmark of this condition.  ...  A universally recognized feature is the asymmetry of clinical presentation, further corroborated by a contralateral asymmetrical atrophy on the structural and hypometabolism on the functional neuroimaging  ... 
doi:10.4061/2011/536141 pmid:21785700 pmcid:PMC3139154 fatcat:2aujtv4zfzcoxbkssaxgoxiwh4

TRAUMATIC BRAIN INJURY- A NEUROBEHAVIOURAL SEQUELAE A REVIEW
English

Gayathri Vijayalakshmi
2017 Journal of Evolution of Medical and Dental Sciences  
BACKGROUND Traumatic brain injury is a global silent epidemic. Diagnosis and management of neurobehavioural manifestations results in better rehabilitation.  ...  Understanding the pathophysiology of brain injuries is vital to personalised medicine in head injury management.  ...  Increased Intracranial Pressure-Swelling of the brain causes distortion because the brain is held in the skull which is a rigid, unyielding structure.  ... 
doi:10.14260/jemds/2017/475 fatcat:g3blcue4czdlxeaxtl7jz47tee

The role of dopamine and dopaminergic pathways in dystonia: insights from neuroimaging

Morvarid Karimi, Joel S Perlmutter
2015 Tremor and Other Hyperkinetic Movements  
In this review, we critically evaluate recent neuroimaging studies that investigate dopamine receptors, endogenous dopamine release, morphology of striatum, and structural or functional connectivity in  ...  A multimodal approach may have the greatest potential, using PET to identify the sites of molecular pathology and magnetic resonance methods to determine their downstream effects.  ...  Delmaire C, Vidailhet M, Eblaz A, et al. Structural abnormalities in the cerebellum and sensorimotor circuit in primary dystonia. Neurology. 2007 Jul 24; 69(4):376-80. 13.  ... 
doi:10.7916/d8j101xv pmid:25713747 pmcid:PMC4314610 fatcat:gcpa3ekbd5dkbijrmq7xjuliky

The Role of Dopamine and Dopaminergic Pathways in Dystonia: Insights from Neuroimaging

Morvarid Karimi, Joel S. Perlmutter
2015 Tremor and Other Hyperkinetic Movements  
In this review, we critically evaluate recent neuroimaging studies that investigate dopamine receptors, endogenous dopamine release, morphology of striatum, and structural or functional connectivity in  ...  A multimodal approach may have the greatest potential, using PET to identify the sites of molecular pathology and magnetic resonance methods to determine their downstream effects.  ...  Delmaire C, Vidailhet M, Eblaz A, et al. Structural abnormalities in the cerebellum and sensorimotor circuit in primary dystonia. Neurology. 2007 Jul 24; 69(4):376-80. 13.  ... 
doi:10.5334/tohm.267 fatcat:gnvy5nmkxrhj5pr7pcizcap7t4

Beta-propeller protein-associated neurodegeneration: a case report and review of the literature

Kjersti Eline Stige, Ivar Otto Gjerde, Gunnar Houge, Per Morten Knappskog, Charalampos Tzoulis
2018 Clinical Case Reports  
Acknowledgments This work was supported by grants from the Regional Health Authority of Western Norway (Helse Vest, grants no 911903, 911988, and 911810).  ...  GH: collected the data and drafted the manuscript. PMK: collected the data and drafted the manuscript.  ...  a band of central hypointensity in the substantia nigra and cerebral peduncles on T1-weighted images.  ... 
doi:10.1002/ccr3.1358 pmid:29445477 pmcid:PMC5799652 fatcat:ptpt2spauzehfar6iaqocelvxe

PET Neuroimaging: Insights on Dystonia and Tourette Syndrome and Potential Applications

Pierpaolo Alongi, Leonardo Iaccarino, Daniela Perani
2014 Frontiers in Neurology  
PET techniques are of considerable value in detecting functional and molecular abnormalities in vivo, according to the adopted radioligands.  ...  The aim of this work is to overview PET consistent neuroimaging literature on pD and GTS that has provided functional and molecular knowledge of the underlying neural dysfunction.  ...  Functional (fMRI) and structural magnetic resonance imaging using advanced techniques as diffusion tensor imaging (DTI) have also been applied to the study of brain functional mechanisms and macrostructural  ... 
doi:10.3389/fneur.2014.00183 pmid:25295029 pmcid:PMC4171987 fatcat:rbbueewfpbatdncy54dfjestd4

Using the shared genetics of dystonia and ataxia to unravel their pathogenesis

Esther A.R. Nibbeling, Cathérine C.S. Delnooz, Tom J. de Koning, Richard J. Sinke, Hyder A. Jinnah, Marina A.J. Tijssen, Dineke S. Verbeek
2017 Neuroscience and Biobehavioral Reviews  
In this review we explore the similarities between spinocerebellar ataxias and dystonias, and suggest potentially shared molecular pathways using a gene co-expression network approach.  ...  Again, however, the effects were inconsistent across and between different types of isolated dystonia (Beukers et al.,  ...  HAJ is supported in part by grants to the Dystonia Coalition from the Office of Rare Diseases Research in the USA National Center for Advancing Translational Studies (TR001456) and the NIH National Institute  ... 
doi:10.1016/j.neubiorev.2017.01.033 pmid:28143763 pmcid:PMC5921080 fatcat:xji75ara2rb4fh2mbpomzooyl4

Fahr's syndrome and clinical correlation: a case series and literature review

Michele Pistacchi, Manuela Gioulis, Flavio Sanson, Sandro Zambito Marsala
2016 Folia Neuropathologica  
Brain computed tomography scans revealed several calcifications in basal ganglia, cerebellar white matter and dentate nuclei.  ...  A b s t r a c t Introduction: Fahr's disease is characterized by bilateral calcium deposition within the basal ganglia, cerebellar dentate nucleus and subcortical brain white matter.  ...  Acknowledgements The authors would like to thank the Santorso Hospital (Santorso, Italy). Disclosure Authors report no conflict of interest.  ... 
doi:10.5114/fn.2016.62538 fatcat:cnqp7dg63jdmpokx2cyz53zg4e

Chiari I malformation manifesting as bilateral trigeminal neuralgia: case report and review of the literature

K. D. Than, M. Sharifpour, A. C. Wang, B. G. Thompson, A. S. Pandey
2010 Journal of Neurology, Neurosurgery and Psychiatry  
From the dystonia group, 14% had early onset (age at onsetÀ14.8 (7.7) years) and 6 (3% of all dystonia patients) displayed imaging changes in the basal ganglia consistent with those seen in NBIA type 1  ...  These patients, born of a consanguineous marriage, had onset of their illness at the age of 16, 26 and 30 years, presenting with focal dystonia (writer's cramp), paroxysmal dystonia, epilepsy, Parkinsonism  ... 
doi:10.1136/jnnp.2009.196121 pmid:21084262 fatcat:lhcqgvbctbalhipbs2xgdqt4ny

A Systematic Review of Long-Interval Intracortical Inhibition as a Biomarker in Neuropsychiatric Disorders

Parmis Fatih, M. Utku Kucuker, Jennifer L. Vande Voort, Deniz Doruk Camsari, Faranak Farzan, Paul E. Croarkin
2021 Frontiers in Psychiatry  
This review conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) sought to examine existing literature focused on LICI as a biomarker in neuropsychiatric  ...  Prior work has examined LICI as a putative biomarker in an array of neuropsychiatric disorders.  ...  The research reported in this publication was supported by the National Institutes of Health (NIH) awards R01 MH113700 and R01 MH124655.  ... 
doi:10.3389/fpsyt.2021.678088 pmid:34149483 pmcid:PMC8206493 fatcat:ymvuzpvhnzcjdn5mxtd3gwhnkq

The Nucleus Accumbens: A Comprehensive Review

Sanjay Salgado, Michael G. Kaplitt
2015 Stereotactic and Functional Neurosurgery  
We then review the relevant anatomy of the NAc, with particular attention to the surgical anatomy, imaging, and targeting necessary to facilitate a proper localization and de-  ...  As such, focal modulation of the biology of the NAc with deep brain stimulation or novel biological therapies such as gene therapy or cell transplantation could have a major impact upon disorders such  ...  Role in Mood Disorders Patients with mood disorders have been found to have a reduced accumbal activation on functional imaging [295] and reduced volume on structural imaging [296] , and a number of  ... 
doi:10.1159/000368279 pmid:25720819 fatcat:6sqv3tcjm5ekhkgcsioixshwgi

Building Bridges Between the Clinic and the Laboratory: A Meeting Review – Brain Malformations: A Roadmap for Future Research

Tamar Sapir, Tahsin Stefan Barakat, Mercedes F. Paredes, Tally Lerman-Sagie, Eleonora Aronica, Wlodzimierz Klonowski, Laurent Nguyen, Bruria Ben Zeev, Nadia Bahi-Buisson, Richard Leventer, Noa Rachmian, Orly Reiner
2019 Frontiers in Cellular Neuroscience  
In the middle of March 2019, a group of scientists and clinicians (as well as those who wear both hats) gathered in the green campus of the Weizmann Institute of Science to share recent scientific findings  ...  This review is aimed at presenting some of the highlights that the audience was exposed to during the three-day meeting.  ...  studies of the cellular and molecular aspects of development and disease etiologies (review Kyrousi and Cappello, 2019) .  ... 
doi:10.3389/fncel.2019.00434 pmid:31611776 pmcid:PMC6776596 fatcat:aaf7mpujlrf55oaz3cl5kuydd4

Post stroke hemi-dystonia in children: a neglected area of research

Daniel Tibussek, Ertan Mayatepek, Dirk Klee, Anne Koy
2015 Molecular and Cellular Pediatrics  
Recent findings from functional imaging studies suggest that dystonia does not result from a single lesion but rather network dysfunctions and abnormalities in functional connectivity.  ...  Pharmacotherapy for dystonia is limited by lack of effect, especially in the long-term treatment. The pathophysiology of dystonia is complex and incompletely understood.  ...  and functional imaging studies of dystonia are not always consistent [28, 29] .  ... 
doi:10.1186/s40348-015-0026-2 pmid:26660977 pmcid:PMC4676777 fatcat:3jp22ox4rrgcnkt7ylh3ejzpaq

Epilepsy: A Review of Selected Clinical Syndromes and Advances in Basic Science

Carl E Stafstrom
2006 Journal of Cerebral Blood Flow and Metabolism  
A large variety of mechanisms alters the balance between excitation and inhibition to predispose a local or widespread region of the brain to hyperexcitability and hypersynchrony.  ...  aberrantly formed local neural circuits in focal cortical dysplasia; (4) synaptic reorganization of limbic circuitry in temporal lobe epilepsy; and (5) abnormal thalamocortical circuit function in childhood  ...  New and improved imaging technologies have documented subtle structural lesions and provided structure-function correlations.  ... 
doi:10.1038/sj.jcbfm.9600265 pmid:16437061 fatcat:54j4ogbutfdg3ble4zekyg3v2i
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