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https://www.readbyqxmd.com/read/29332081/radiosurgical-subthalamic-nucleotomy
#1
Jean Régis, Romain Carron, Tatiana Witjas
Deep brain stimulation (DBS) of the subthalamic nucleus (STN) is the reference technique in Parkinson's disease (PD) at different stages of complications. Some patients cannot afford DBS due to anticoagulation or comorbidities or due to pecuniary reasons. Radiosurgery is a minimally invasive stereotactic technique, with no craniotomy and subsequently no risk of bleeding or infection. Its good safety efficacy profile has been established in the treatment of tremor, and the postoperative care issues are simple with a much shorter hospital stay (mean 48 h)...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332080/radiosurgical-pallidotomy-for-parkinson-s-disease
#2
Leslie D Cahan, Ronald F Young, Francisco Li
Deep brain stimulation (DBS) has been widely accepted as a tool for treating many symptoms of Parkinson's disease (PD); pallidotomy has been nearly abandoned. Concerns about both the safety and efficacy of pallidotomy are based on small series, isolated case reports, and techniques that would now be considered obsolete. The senior author recently reviewed long-term follow-up of a series of patients who had gamma knife pallidotomy (GKP) for advanced PD. GKP leads to durable, clinically significant benefit. Bilateral GKP adds incremental improvement...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332069/the-history-of-movement-disorder-brain-surgery
#3
L Dade Lunsford, Ajay Niranjan
The first surgical procedures for abnormal movement disorders began in the 1930s, when surgeons first proposed ablative techniques of the caudate nucleus or transection of motor (pyramidal) pathways to reduce involuntary movements in patients with Parkinson's related tremor. During the 50-year interval between 1945 and 1995, the development of precise intracranial guiding devices, brain maps, and advanced imaging led to the refinement of appropriate deep brain targets affecting extrapyramidal pathways. Lesional surgery and subsequent neuroaugmentation using deep brain stimulation extended the role of deep brain surgery for a wider group of patients with tremor, rigidity, dyskinesia, and other involuntary movement disorders...
2018: Progress in Neurological Surgery
https://www.readbyqxmd.com/read/29332008/leg-stereotypy-syndrome-phenomenology-and-prevalence
#4
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
https://www.readbyqxmd.com/read/29330545/de-novo-bk-channel-variant-causes-epilepsy-by-affecting-voltage-gating-but-not-ca2-sensitivity
#5
Xia Li, Sibylle Poschmann, Qiuyun Chen, Walid Fazeli, Nelly Jouayed Oundjian, Francesca M Snoeijen-Schouwenaars, Oliver Fricke, Erik-Jan Kamsteeg, Marjolein Willemsen, Qing Kenneth Wang
Epilepsy is one of the most common neurological diseases and it causes profound morbidity and mortality. We identified the first de novo variant in KCNMA1 (c.2984 A > G (p.(N995S)))-encoding the BK channel-that causes epilepsy, but not paroxysmal dyskinesia, in two independent families. The c.2984 A > G (p.(N995S)) variant markedly increased the macroscopic potassium current by increasing both the channel open probability and channel open dwell time. The c.2984 A > G (p.(N995S)) variant did not affect the calcium sensitivity of the channel...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29324468/switching-antipsychotic-treatment-to-aripiprazole-in-psychotic-patients-with-neuroleptic-induced-tardive-dyskinesia-a-24-week-follow-up-study
#6
Chia-Hsiang Chan, Hung-Yu Chan, Yen-Ching Chen
Aripiprazole is a second-generation antipsychotics, acting as a partial dopamine D2 receptor agonist. Previous studies on aripiprazole for tardive dyskinesia (TD) treatment were limited and inconclusive. This study was aimed to examine the effectiveness of aripiprazole in psychotic patients with a pre-existing TD. This was an open-label 24-week prospective cohort study conducted in a public mental hospital in Northern Taiwan from January 2009 to February 2010.Psychotic patients were cross-titrated of prior antipsychotics with aripiprazole, and the severity of TD was assessed at baseline and at weeks 2, 4, 8, 12, 16, 20, and 24...
January 10, 2018: International Clinical Psychopharmacology
https://www.readbyqxmd.com/read/29323929/variation-in-cilia-protein-genes-and-progression-of-lung-disease-in-cystic-fibrosis
#7
Elizabeth Blue, Tin L Louie, Jessica X Chong, Scott J Hebbring, Kathleen C Barnes, Nicholas M Rafaels, Michael R Knowles, Ronald L Gibson, Michael J Bamshad, Mary J Emond
RATIONALE: Cystic fibrosis, like primary ciliary dyskinesia, is an autosomal recessive disorder characterized by abnormal mucociliary clearance and obstructive lung disease. We hypothesized that genes underlying the development or function of cilia may modify lung disease severity in persons with cystic fibrosis. OBJECTIVES: To test this hypothesis, we compared variants in 93 candidate genes in both upper and lower tertiles of lung function in a large cohort of children and adults with cystic fibrosis to a population control data set...
January 11, 2018: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/29323400/-amimia-in-parkinson-s-disease-significance-and-correlation-with-the-clinical-features
#8
P J Garcia-Ruiz, C E Feliz-Feliz, T Maycas-Cepeda, J Del Val-Fernandez
INTRODUCTION: Reduced facial expression or amimia is one of the most typical characteristics of Parkinson's disease (PD). Despite being described in classic texts, its significance, physiopathology and correlation with motor and non-motor symptoms is largely unknown. PATIENTS AND METHODS: We have studied facial bradykinesia in a group of 84 de novo PD patients prospectively evaluated for five years. We also studied the relationship of facial bradykinesia with depression in a subgroup of 30 patients...
January 16, 2018: Revista de Neurologia
https://www.readbyqxmd.com/read/29316973/kartagener-s-syndrome-a-case-report
#9
Abilo Tadesse, Hailemariam Alemu, Mezgebu Silamsaw, Yonathan Gebrewold
BACKGROUND: Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disorder characterized by the clinical triad of chronic sinusitis, bronchiectasis, and situs inversus. Abnormal ciliary structure or function leading to impaired ciliary motility is the main pathophysiologic problem in Kartagener's syndrome. CASE PRESENTATION: A 24-year-old man from Gondar town, North-West Ethiopia, presented to University of Gondar Hospital with recurrent episodes of nasal congestion with itching and paranasal discomfort, and productive cough for more than a decade...
January 10, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29315470/motor-subtypes-and-other-risk-factors-associated-with-drooling-in-parkinson-s-disease-patients
#10
C J Mao, Y T Xiong, F Wang, Y P Yang, W Yuan, C Zhu, J Chen, C F Liu
OBJECTIVE: To explore the relationship between motor subtypes and drooling, and other risk factors associated with drooling in a large cohort of Chinese patients with Parkinson's disease (PD). METHODS: A total of 586 PD patients were enrolled in this study. Unified Parkinson's disease rating scale (UPDRS) and Hoehn & Yahr stage (H & Y stage) scale, Epworth Sleepiness Scale (ESS), Pittsburgh Sleep Quality Index (PSQI), Hamilton Rating Scale for Depression-24 item (HRSD), and Mini-Mental State Examination (MMSE) were applied to all subjects...
January 9, 2018: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/29305656/serotonergic-targets-for-the-treatment-of-l-dopa-induced-dyskinesia
#11
REVIEW
Kathryn Lanza, Christopher Bishop
Dopamine (DA) replacement therapy with L-3,4-dihydroxyphenylalanine (L-DOPA) continues to be the gold-standard treatment for Parkinson's disease (PD). Despite clear symptomatic benefit, long-term L-DOPA use often results in the development of L-DOPA-induced dyskinesia (LID), significantly reducing quality of life and increasing costs for PD patients and their caregivers. Accumulated research has demonstrated that several pre- and post-synaptic mechanisms contribute to LID development and expression. In particular, raphe-striatal hyperinnervation and unregulated DA release from 5-HT terminals is postulated to play a central role in LID manifestation...
January 5, 2018: Journal of Neural Transmission
https://www.readbyqxmd.com/read/29305084/poor-nighttime-sleep-is-positively-associated-with-dyskinesia-in-parkinson-s-disease-patients
#12
Cheng-Jie Mao, Ya-Ping Yang, Ju-Ping Chen, Fen Wang, Jing Chen, Jin-Ru Zhang, Hui-Jun Zhang, Sheng Zhuang, Yi-Tong Xiong, Chen-Chen Gu, Wen Yuan, Juan-Ying Huang, Alexander Fay, Chong-Ke Zhong, Chun-Feng Liu
BACKGROUND: Dyskinesia is a troublesome complication of long-term dopaminergic medications in Parkinson's disease (PD) patients. Many factors are reported to be associated with dyskinesia in PD. OBJECTIVE: To investigate the association between sleep quality and dyskinesia in patients with PD. METHODS: Four hundred twenty-five patients with PD were enrolled in this study. Demographic information was collected. Unified Parkinson's Disease Rating Scale (UPDRS) and Hoehn and Yahr (H-Y) stage scale were also performed...
December 21, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29304113/discovery-of-indolylpiperazinylpyrimidines-with-dual-target-profiles-at-adenosine-a2a-and-dopamine-d2-receptors-for-parkinson-s-disease-treatment
#13
Yi-Ming Shao, Xiaohua Ma, Priyankar Paira, Aaron Tan, Deron Raymond Herr, Kah Leong Lim, Chee Hoe Ng, Gopalakrishnan Venkatesan, Karl-Norbert Klotz, Stephanie Federico, Giampiero Spalluto, Siew Lee Cheong, Yu Zong Chen, Giorgia Pastorin
Parkinson's disease (PD) is a neurodegenerative disorder characterized by progressive loss of dopaminergic neurons in the substantia nigra of the human brain, leading to depletion of dopamine production. Dopamine replacement therapy remains the mainstay for attenuation of PD symptoms. Nonetheless, the potential benefit of current pharmacotherapies is mostly limited by adverse side effects, such as drug-induced dyskinesia, motor fluctuations and psychosis. Non-dopaminergic receptors, such as human A2A adenosine receptors, have emerged as important therapeutic targets in potentiating therapeutic effects and reducing the unwanted side effects...
2018: PloS One
https://www.readbyqxmd.com/read/29303799/open-access-electronic-diary-for-motor-fluctuation-and-dyskinesia-evaluation-in-parkinson-disease-comparison-with-paper-diary
#14
Cinthia Terroba-Chambi, Veronica Bruno, Alex Medina-Escobar, Federico Nanni, Daniel Cerquetti, Malco Rossi, Marcelo Merello
OBJECTIVE: To determine the utility of an electronic diary for registering motor fluctuations and dyskinesia in Parkinson disease (PD). METHODS: Free, open-access touch screen software suitable for Android 4.4 or higher, with medication alarms, adjustable intervals, and medication dose settings was developed to evaluate ON-OFF periods and dyskinesia. Prospective evaluation included a first phase conducted to make adjustments concerning motor limitations when using the tablet, as well as for proper motor complication identification, and a second phase of 3 days of use at home with a prior diary training session comparing a modified paper version of Core Assessment Program for Surgical Interventional Therapies in PD and the electronic diary...
January 5, 2018: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/29302744/brain-structural-and-functional-asymmetry-in-human-situs-inversus-totalis
#15
Guy Vingerhoets, Xiang Li, Lewis Hou, Stephanie Bogaert, Helena Verhelst, Robin Gerrits, Roma Siugzdaite, Neil Roberts
Magnetic resonance imaging was used to investigate brain structural and functional asymmetries in 15 participants with complete visceral reversal (situs inversus totalis, SIT). Language-related brain structural and functional lateralization of SIT participants, including peri-Sylvian gray and white matter asymmetries and hemispheric language dominance, was similar to those of 15 control participants individually matched for sex, age, education, and handedness. In contrast, the SIT cohort showed reversal of the brain (Yakovlevian) torque (occipital petalia and occipital bending) compared to the control group...
January 4, 2018: Brain Structure & Function
https://www.readbyqxmd.com/read/29299386/serum-sodium-and-chloride-are-inversely-associated-with-dyskinesia-in-parkinson-s-disease-patients
#16
Cheng-Jie Mao, Chong-Ke Zhong, Yong Yang, Ya-Ping Yang, Fen Wang, Jing Chen, Jin-Ru Zhang, Hui-Jun Zhang, Hong Jin, Ling-Li Xu, Juan-Ying Huang, Chun-Feng Liu
Objective: We aim to report and evaluate the associations between serum sodium and chloride and dyskinesia in patients with Parkinson's disease. One hundred and two patients with Parkinson's disease were enrolled in this study. Methods: Patients' serum electrolytes including sodium, calcium, potassium, magnesium, and chloride were measured. Other demographic information was collected, and Unified Parkinson's disease rating scale and Hoehn and Yahr stage scale were also performed...
December 2017: Brain and Behavior
https://www.readbyqxmd.com/read/29287859/hearing-loss-in-children-with-primary-ciliary-dyskinesia
#17
Kathryn L Kreicher, Heather K Schopper, Akash N Naik, Jonathan L Hatch, Ted A Meyer
OBJECTIVES: To evaluate the type and severity of hearing impairment in pediatric patients with primary ciliary dyskinesia (PCD) and relate these measures to patient demographics, treatment options, and other otologic factors. METHODS: A retrospective analysis of children with a diagnosis of PCD, Kartagener's syndrome, or situs inversus in the AudGen Database was conducted. Audiograms were analyzed for type of hearing loss (HL), severity, laterality, and progression...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29287112/mitochondrial-dna-depletion-by-ethidium-bromide-decreases-neuronal-mitochondrial-creatine-kinase-implications-for-striatal-energy-metabolism
#18
Emily Booth Warren, Aidan Edward Aicher, Joshua Patrick Fessel, Christine Konradi
Mitochondrial DNA (mtDNA), the discrete genome which encodes subunits of the mitochondrial respiratory chain, is present at highly variable copy numbers across cell types. Though severe mtDNA depletion dramatically reduces mitochondrial function, the impact of tissue-specific mtDNA reduction remains debated. Previously, our lab identified reduced mtDNA quantity in the putamen of Parkinson's Disease (PD) patients who had developed L-DOPA Induced Dyskinesia (LID), compared to PD patients who had not developed LID and healthy subjects...
2017: PloS One
https://www.readbyqxmd.com/read/29286148/dl%C3%A2-3%C3%A2-n%C3%A2-butylphthalide-reduces-microglial-activation-in-lipopolysaccharide%C3%A2-induced-parkinson-s-disease-model-mice
#19
Yuhua Chen, Mujun Jiang, Li Li, Ming Ye, Meiling Yu, Lina Zhang, Bobo Ge, Wenfang Xu, Daoxiang Wei
As microglial activation is a key factor in the pathogenesis of Parkinson's disease (PD), drugs that target this process may help to prevent or delay the development of PD. The present study investigated the effects of dl‑3‑n‑butylphthalide (NBP) on microglia in a lipopolysaccharide (LPS)-induced PD mouse model. The mice were randomly divided into a blank control group, LPS control group and NBP + LPS treatment group. Mice in the treatment group were given an intragastric infusion of 120 mg/kg NBP daily for 30 days during the establishment of the PD mouse model...
December 20, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29285950/prrt2-mutations-in-a-cohort-of-chinese-families-with-paroxysmal-kinesigenic-dyskinesia-and-genotype-phenotype-correlation-reanalysis-in-literatures
#20
Guohua Zhao, Xiaomin Liu, Qiong Zhang, Kang Wang
PURPOSE OF THE STUDY: Though rare, children are susceptible to paroxysmal dyskinesias (PxDs) such as paroxysmal kinesigenic dyskinesia (PKD), and infantile convulsions and choreoathetosis (ICCA, also termed PKD/IC). PKD is characterized by recurrent attacks of involuntary movements mostly starting around puberty, and PKD/IC also presents with clusters of non-febrile seizures at ages between 3 and 12 months in addition to symptoms of PKD. Recent studies showed that the cause of PKD or PKD/IC could be proline-rich transmembrane protein 2 (PRRT2) gene mutations...
December 29, 2017: International Journal of Neuroscience
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