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Parkinson's Disease, neurology, movement disorder

Benjamin D Wissel, Alok K Dwivedi, Aristide Merola, Danielle Chin, Cara Jacob, Andrew P Duker, Jennifer E Vaughan, Lilia Lovera, Kathrin LaFaver, Ariel Levy, Anthony E Lang, Francesca Morgante, Melissa Jill Nirenberg, Christopher Stephen, Nutan Sharma, Alberto Romagnolo, Leonardo Lopiano, Bettina Balint, Xin X Yu, Kailash P Bhatia, Alberto J Espay
OBJECTIVE: To ascertain demographic and clinical features of Parkinson disease (PD) associated with functional neurological features. METHODS: A standardised form was used to extract data from electronic records of 53 PD patients with associated functional neurological disorders (PD-FND) across eight movement disorders centres in the USA, Canada and Europe. These subjects were matched for age, gender and disease duration to PD patients without functional features (PD-only)...
March 16, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
Nitish Kamble, Pramod Kumar Pal
Among the involuntary movement disorders, tremor is a common phenomenology seen in clinical practice. The important factors that need to be determined while assessing a patient with tremor include the phenomenology of tremor, presence or absence of other neurologic signs, and the effect of medications or alcohol. Tremor can broadly be classified based on the circumstances under which it occurs, i.e., rest or action. The basal ganglia-cerebello-thalamic and dentate-olivary circuits are involved in the generation of tremor...
March 2018: Neurology India
Divya M Radhakrishnan, Vinay Goyal
Parkinson's disease is a common movement disorder seen in neurological practice, but the diagnosis and management is challenging. The diagnosis is clinical and sometimes difficult, considering a large number of motor and non-motor symptoms in PD patients. The medical management of PD patients is difficult, as choices of drugs are limited and levodopa is the mainstay of treatment. However, levodopa-induced dyskinesia (LID) is commonly seen in Parkinson's disease patients treated with levodopa. This side effect is usually encountered after a long duration of treatment, but occasionally, this may be seen even after a few days or months of treatment...
March 2018: Neurology India
Wei Song, Vimal Kothari, Ana M Velly, Marisa Cressatti, Adrienne Liberman, Mervyn Gornitsky, Hyman M Schipper
BACKGROUND AND HYPOTHESIS: To date, there are no chemical analytes, including biochemical indices of oxidative stress, metabolites of α-synuclein protein, and differential protein expression patterns on proteomic profiling, for use in clinics as a diagnostic biomarker of idiopathic PD. OBJECTIVES: Heme oxygenase-1 has been implicated in the pathogenesis of PD. The objective of this study is to ascertain whether salivary heme oxygenase-1 may serve as a biomarker for early idiopathic PD...
February 28, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Vikas Kotagal, Roger L Albin, Martijn L T M Müller, Nicolaas I Bohnen
BACKGROUND: Medical comorbidities, including cardiovascular risk factors such as hypertension and diabetes, influence disease progression in Parkinson disease (PD) and may be variably present in different clinical populations. OBJECTIVE/METHODS: We conducted a retrospective nested case-control study of 29 Veterans with PD and 29 non-Veteran PD controls. The groups were matched for age, gender, and disease duration. Both groups underwent clinical and imaging testing as part of their participation in a larger cross-sectional PD observational study at our research center...
2018: Journal of Parkinson's Disease
Rebecca L Achey, Erin Yamamoto, Daniel Sexton, Christine Hammer, Bryan S Lee, Robert S Butler, Nicolas R Thompson, Sean J Nagel, Andre G Machado, Darlene A Lobel
OBJECTIVE Deep brain stimulation (DBS) is an effective therapy for movement disorders such as idiopathic Parkinson's disease (PD) and essential tremor (ET). However, some patients who demonstrate benefit on objective motor function tests do not experience postoperative improvement in depression or anxiety, 2 important components of quality of life (QOL). Thus, to examine other possible explanations for the lack of a post-DBS correlation between improved objective motor function and decreased depression or anxiety, the authors investigated whether patient perceptions of motor symptom severity might contribute to disease-associated depression and anxiety...
February 23, 2018: Journal of Neurosurgery
Laurène Leclair-Visonneau, Laurent Magy, Christelle Volteau, Thomas Clairembault, Séverine Le Dily, Cécile Préterre, Arnaud Peyre, Philippe Damier, Michel Neunlist, Yann Péréon, Pascal Derkinderen
Dysautonomic symptoms are frequent non-motor complaints in patients with Parkinson's disease. Numerous neuropathological studies have shown that Lewy bodies and neurites, the pathological hallmarks of Parkinson's disease, are widely distributed throughout the peripheral autonomic nervous systems and across end organs. However, few investigations integrally explored the symptoms and physiology of dysautonomia in Parkinson's disease. We, therefore, performed a comprehensive evaluation of the autonomic function in a prospective group of 45 patients with idiopathic Parkinson's disease...
February 20, 2018: Journal of Neurology
Zubair Ahmed Nizamudeen, Lisa Chakrabarti, Virginie Sottile
Fasudil is a clinically approved Rho-associated protein kinase (ROCK) inhibitor that has been used widely to treat cerebral consequences of subarachnoid hemorrhage. It is known to have a positive effect on animal models of neurological disorders including Parkinson's disease and stroke. However, its cellular effect on progenitor populations and differentiation is not clearly understood. While recent studies suggest that fasudil promotes the mobilization of neural stem cells (NSCs) from the subventricular zone in vivo and promotes the differentiation of the C17...
February 6, 2018: Stem Cell Research
Yves Dauvilliers, Sofiene Chenini, Jérôme Vialaret, Constance Delaby, Lily Guiraud, Audrey Gabelle, Regis Lopez, Christophe Hirtz, Isabelle Jaussent, Sylvain Lehmann
BACKGROUND: To better understand the role of iron homeostasis dysregulation in restless legs syndrome, we compared serum hepcidin and ferritin levels in drug-free patients with primary restless legs syndrome and healthy controls and studied the relationship between hepcidin level and restless legs syndrome severity. METHODS: One hundred and eight drug-free patients with primary restless legs syndrome (65 women; median age, 61.5 years) and 45 controls (28 women; median age, 53...
February 8, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Niels Allert, Binith Cheeran, Günther Deuschl, Michael T Barbe, Ilona Csoti, Markus Ebke, Martin Glaser, Jun-Suk Kang, Stefan Kelm, Paul Krack, Julia Kroth, Ulrich Jobst, Markus Leisse, Antonio Oliviero, Peter Nikolaus Nolte, Johanna Quick-Weller, Martin Strothjohann, Gertrúd Tamás, Michael Werner, Muthuraman Muthuraman, Jens Volkmann, Alfonso Fasano, Sergiu Groppa
Deep brain stimulation (DBS) is a highly efficient, evidence-based therapy for a set of neurological and psychiatric conditions and especially movement disorders such as Parkinson's disease, essential tremor and dystonia. Recent developments have improved the DBS technology. However, no unequivocal algorithms for an optimized postoperative care exist so far. The aim of this review is to provide a synopsis of the current clinical practice and to propose guidelines for postoperative and rehabilitative care of patients who undergo DBS...
March 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
Chiara Reale, Celeste Panteghini, Miryam Carecchio, Barbara Garavaglia
Next-Generation Sequencing (NGS) is a group of new methods that allow sequencing a variable number of known genes (targeted resequencing) or even the whole human genome (whole genome sequencing-WGS) and have contributed to an exponential genetic knowledge growth, especially in rare diseases, in the past few years. Since 2015, in the Molecular Neurogenetics Unit of Neurological Institute "Carlo Besta", some gene panels have become available to screen all the known genes associated with Movement Disorders (MD) in children and adults as a diagnostic package...
January 29, 2018: European Journal of Paediatric Neurology: EJPN
Michela Stagnaro, Livia Pisciotta, Marcella Gherzi, Maja Di Rocco, Fiorella Gurrieri, Elena Parrini, Giulia Prato, Edvige Veneselli, Elisa De Grandis
Mutations in the ATP1A3 gene, which encodes the alpha3-subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non classical phenotypes have been reported. Herein we describe 7 patients with 6 different de novo ATP1A3 mutations, and we focus on paroxysmal and chronic movement disorders with the help of video documentation...
January 29, 2018: European Journal of Paediatric Neurology: EJPN
Ryan Shickman, Jessica Famula, Flora Tassone, Maureen Leehey, Emilio Ferrer, Susan M Rivera, David Hessl
BACKGROUND: Fragile X premutation carriers are at increased risk for fragile X-associated tremor ataxia syndrome (FXTAS), but to date we know little about prediction of onset and rate of progression and even less about treatment of this neurodegenerative disease. Thus, the longitudinal study of carriers, and the identification of potential biomarkers and prodromal states, is essential. Here we present results of baseline assessments from an ongoing longitudinal project. METHODS: The cohort consisted of 73 men, 48 with the fragile X mental retardation 1 (FMR1) premutation (55-200 cytosine-cytosine-guanine or CGG repeats) and 25 well-matched controls (< 40 repeats) aged between 40 and 75 years...
February 1, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Domenico Gerardo Iacopino, Cesare Gagliardo, Antonella Giugno, Giuseppe Roberto Giammalva, Alessandro Napoli, Rosario Maugeri, Francesca Graziano, Francesca Valentino, Giuseppe Cosentino, Marco D'Amelio, Tommaso Vincenzo Bartolotta, Carlo Catalano, Brigida Fierro, Massimo Midiri, Roberto Lagalla
OBJECTIVE Transcranial magnetic resonance-guided focused ultrasound surgery (tcMRgFUS) is one of the emerging noninvasive technologies for the treatment of neurological disorders such as essential tremor (ET), idiopathic asymmetrical tremor-dominant Parkinson's disease (PD), and neuropathic pain. In this clinical series the authors present the preliminary results achieved with the world's first tcMRgFUS system integrated with a 1.5-T MRI unit. METHODS The authors describe the results of tcMRgFUS in a sample of patients with ET and with PD who underwent the procedure during the period from January 2015 to September 2017...
February 2018: Neurosurgical Focus
Thomas Wichmann
Movement disorders are common and functionally disabling neurologic diseases. Studies over the last decades have investigated the pathophysiology of these diseases in considerable detail, leading to significant insights into their generation of motor disability. While genetically and clinically heterogeneous, most of them are accompanied by prominent and characteristic changes in firing rates and patterns in the basal ganglia, thalamus, and cortex. In recent years, researchers have placed increasing emphasis on the importance of oscillatory changes in firing in these structures, and have discovered that brain areas that were previously considered to be remote from the basal ganglia (such as the cerebellum and the pedunculopontine nucleus) are also highly significant in these disorders...
2018: Progress in Neurological Surgery
Mitesh Lotia, Michele K York, Adriana M Strutt, Joseph Jankovic
OBJECTIVES: To describe the phenomenology and prevalence of leg stereotypy syndrome (LSS), characterised chiefly by repetitive, rhythmical, stereotypic leg movement, especially when sitting. METHODS: We sought to characterise LSS in two groups of subjects: (1) general population (GP) group, defined as individuals accompanying patients during their visits to Baylor College of Medicine Parkinson's Disease Center and Movement Disorders Clinic who are not genetically related to the patients; and (2) movement disorders (MD) group, composed of consecutive patients with diagnoses of restless legs syndrome, Parkinson's disease, Tourette syndrome and tardive dyskinesia...
January 13, 2018: Journal of Neurology, Neurosurgery, and Psychiatry
Silke Appel-Cresswell, Ilaria Guella, Anna Lehman, Dean Foti, Matthew J Farrer
Mutations in presenilin 1 ( PSEN1 ) are the most common cause of autosomal dominant Alzheimer's disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including prominent ataxia, Parkinsonism, spasticity, dystonia, action tremor, myoclonus, bulbar symptoms, seizures, hallucinations and behavioral changes. Whole-exome sequencing (WES) was performed on the affected proband after many assessments over several years proved diagnostically inconclusive...
January 2018: Journal of Movement Disorders
Elizabeth A Coon, Jeremy K Cutsforth-Gregory, Eduardo E Benarroch
The synucleinopathies-Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and pure autonomic failure-result from distinct patterns of abnormal α-synuclein aggregation throughout the nervous system. Autonomic dysfunction in these disorders results from variable involvement of the central and peripheral autonomic networks. The major pathologic hallmark of Parkinson's disease and dementia with Lewy bodies is Lewy bodies and Lewy neurites; of multiple system atrophy, oligodendroglial cytoplasmic inclusions; and of pure autonomic failure, peripheral neuronal cytoplasmic inclusions...
January 3, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
Hélio Afonso Ghizoni Teive, Carlos Henrique Ferreira Camargo, Renato Puppi Munhoz
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ATM gene with progressive neurological dysfunction, multisystem abnormalities and cancer predisposition. Classically, AT is associated with cerebellar ataxia, oculocutaneous telangiectasia and oculomotor apraxia. The aim of this review is to describe the movement disorders observed in patients with AT. Movement disorders in AT patients described in the literature are reviewed. The selected articles were analyzed with a focus on clinical presentation, presence of movement disorders, and atypical cases or variants of the syndrome...
January 2018: Parkinsonism & related Disorders
Vibhor Krishna, Francesco Sammartino, Ali Rezai
Importance: Magnetic resonance imaging-guided focused ultrasound ablation has been approved for the treatment of refractory essential tremor and is being studied for other neurological indications, including dyskinesias and tremor in Parkinson disease, dystonia, neuropathic pain, obsessive-compulsive disorder, epilepsy, and brain tumors. Objective: To review the scientific foundations of FUS technology, existing neurological applications, and future advances. Evidence Review: PubMed was searched for the past 10 years using the terms "transcranial ultrasound," "focused ultrasound," and "neurological applications...
February 1, 2018: JAMA Neurology
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