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Gro Gujord Tangen, Astrid Bergland, Knut Engedal, Anne Marit Mengshoel
Parkinsonian signs are common in patients with Alzheimer's disease (AD) of mild degree and predict functional decline, but their relationship with gait speed and balance is unclear. The aims of this study were to describe characteristics of patients with parkinsonian signs among 98 patients with AD of mild degree (with no comorbid Parkinson's disease), and to examine associations between parkinsonian signs with gait speed and balance. A cross sectional study at a memory clinic was conducted. Presence of each parkinsonian sign (bradykinesia, rigidity and tremor) was derived from the UPDRS, regular gait speed was recorded over 10m and balance were assessed using the Mini-Balance Evaluation Systems Test (Mini-BESTest)...
October 14, 2016: Gait & Posture
Franziska Hopfner, Dietrich Haubenberger, Wendy R Galpern, Katrina Gwinn, Ashlee Van't Veer, Samantha White, Kailash Bhatia, Charles H Adler, David Eidelberg, William Ondo, Glenn T Stebbins, Caroline M Tanner, Rick C Helmich, Fred A Lenz, Roy V Sillitoe, David Vaillancourt, Jerrold L Vitek, Elan D Louis, Holly A Shill, Matthew P Frosch, Tatiana Foroud, Gregor Kuhlenbäumer, Andrew Singleton, Claudia M Testa, Mark Hallett, Rodger Elble, Günther Deuschl
Essential tremor (ET) is a common cause of significant disability, but its etiologies and pathogenesis are poorly understood. Research has been hampered by the variable definition of ET and by non-standardized research approaches. The National Institute of Neurological Disorders and Stroke (USA) invited experts in ET and related fields to discuss current knowledge, controversies, and gaps in our understanding of ET and to develop recommendations for future research. Discussion focused on phenomenology and phenotypes, therapies and clinical trials, pathophysiology, pathology, and genetics...
October 4, 2016: Parkinsonism & related Disorders
Julie M Hall, Kaylena A Ehgoetz Martens, Courtney C Walton, Claire O'Callaghan, Peter E Keller, Simon J G Lewis, Ahmed A Moustafa
Parkinson's disease (PD) is a heterogeneous neurological disorder with a variety of motor and non-motor symptoms. The underlying mechanisms of these symptoms are not fully understood. An increased interest in structural connectivity analyses using diffusion tensor imaging (DTI) in PD has led to an expansion of our understanding of the impact of abnormalities in diffusivity on phenotype. This review outlines the contribution of these abnormalities to symptoms of PD including bradykinesia, tremor and non-tremor phenotypes, freezing of gait, cognitive impairment, mood, sleep disturbances, visual hallucinations and olfactory dysfunction...
September 28, 2016: Parkinsonism & related Disorders
Elisa Bruno, Alessandra Nicoletti, Graziella Quattrocchi, Graziella Filippini, Carlo Colosimo, Mario Zappia
BACKGROUND: Essential tremor is one of the most common movement disorders. Treatment primarily consists of pharmacological agents. While primidone and propranolol are well-established treatments in clinical practice, they may be ineffective in 25% to 55% of patients and can produce serious adverse events in a large percentage of them. For these reasons, it is worth evaluating the treatment alternatives for essential tremor. Some specialists have suggested that pregabalin could be a potentially useful agent, but there is uncertainty about its efficacy and safety...
October 20, 2016: Cochrane Database of Systematic Reviews
Chien-Wei Feng, Han-Chun Hung, Shi-Ying Huang, Chun-Hong Chen, Yun-Ru Chen, Chun-Yu Chen, San-Nan Yang, Hui-Min David Wang, Ping-Jyun Sung, Jyh-Horng Sheu, Kuan-Hao Tsui, Wu-Fu Chen, Zhi-Hong Wen
Parkinson's disease (PD) is a neurodegenerative disorder characterized by tremor, rigidity, bradykinesia, and gait impairment. In a previous study, we found that the marine-derived compound 11-dehydrosinulariolide (11-de) upregulates the Akt/PI3K pathway to protect cells against 6-hydroxydopamine (6-OHDA)-mediated damage. In the present study, SH-SY5Y, zebrafish and rats were used to examine the therapeutic effect of 11-de. The results revealed the mechanism by which 11-de exerts its therapeutic effect: the compound increases cytosolic or mitochondrial DJ-1 expression, and then activates the downstream Akt/PI3K, p-CREB, and Nrf2/HO-1 pathways...
October 17, 2016: Marine Drugs
A Vora, Amit Bhargava
INTRODUCTION: Cough is significant health problem with greater implication for impaired quality of life. Acute and chronic cough due to infective (viral/bacterial), allergic conditions or bronchial asthma including cough variant asthma are often treated with combination of mucolytics, expectorants and bronchodilators. Bronchodilators reduces cough sensitivity, promotes clearance of cough secretions while reducing protrusive inflammatory mediator release. AIMS AND OBJECTIVES: To further understand the clinical utility and safety of Bronchodilatory cough formulations (BCF) containing Levosalbutamol in real world settings...
September 2016: Journal of the Association of Physicians of India
Amy Krans, Michael G Kearse, Peter K Todd
OBJECTIVE: Repeat associated non-AUG (RAN) translation drives production of toxic proteins from pathogenic repeat sequences in multiple untreatable neurodegenerative disorders. Fragile X-associated tremor/ataxia syndrome (FXTAS) is one such condition, resulting from a CGG trinucleotide repeat expansion in the 5' leader sequence of the FMR1 gene. RAN proteins from the CGG repeat accumulate in ubiquitinated inclusions in FXTAS patient brains and elicit toxicity. In addition to the CGG repeat, an antisense mRNA containing a CCG repeat is also transcribed from the FMR1 locus...
October 19, 2016: Annals of Neurology
Ichiro Chihara, Satoshi Nitta, Tomokazu Kimura, Shuya Kandori, Takashi Kawahara, Natsui Waku, Takahiro Kojima, Akira Joraku, Jun Miyazaki, Hitoshi Iwasaki, Hiroaki Suzuki, Koji Kawai, Hiroyuki Nishiyama
We reported two cases of hyperthyroidism that developed during induction chemotherapy for advanced germ cell tumors with high serum human chorionic gonadotropin (hCG) levels. Case 1 : An 18-year-old man with mediastinal choriocarcinoma complained of tachycardia and tremor. His pretreatment serum hCG level was 1.37 million mIU/ml. The free thyroxine (fT4) level measured on day 2 of the first course of bleomycin, etoposide and cisplatin (BEP) was elevated to 7.8 ng/dl (<1.7 ng/dl), whereasthe thyroidstimulating hormone (TSH) level was undetectable...
September 2016: Hinyokika Kiyo. Acta Urologica Japonica
Hélio A G Teive, Délcio C Bertucci, Renato P Munhoz
Objective: Patients with Parkinson's disease (PD) may present with unusual motor and non-motor symptoms and signs in the early stage of the disease. Methods: Cases were collected over a five-year period at two tertiary movement disorders clinics. All had a diagnosis of PD with unusual presentations defined retrospectively as the presence of complaints not objectively related to any of the classic cardinal signs of parkinsonism or the typical early non-motor features of PD...
October 2016: Arquivos de Neuro-psiquiatria
Orjan Skogar, Johan Lokk
This review focuses on the diagnosis and management of Parkinson-related pain which is one of the more frequently reported nonmotor symptoms in Parkinson's disease (PD), which is the second most common neurodegenerative disease after Alzheimer's disease. Pain is ranked high by patients as a troublesome symptom in all stages of the disease. In early-stage PD, pain is rated as the most bothersome symptom. Knowledge of the correct diagnosis of pain origin and possible methods of treatments for pain relief in PD is of great importance...
2016: Journal of Multidisciplinary Healthcare
Indhu-Shree Rajan-Babu, Samuel S Chong
Fragile X syndrome (FXS) is the most common monogenic cause of intellectual disability and autism. Molecular diagnostic testing of FXS and related disorders (fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated tremor/ataxia syndrome (FXTAS)) relies on a combination of polymerase chain reaction (PCR) and Southern blot (SB) for the fragile X mental retardation 1 (FMR1) CGG-repeat expansion and methylation analyses. Recent advancements in PCR-based technologies have enabled the characterization of the complete spectrum of CGG-repeat mutation, with or without methylation assessment, and, as a result, have reduced our reliance on the labor- and time-intensive SB, which is the gold standard FXS diagnostic test...
October 14, 2016: Genes
Scott A Norris, H A Jinnah, Alberto J Espay, Christine Klein, Norbert Brüggemann, Richard L Barbano, Irene Andonia C Malaty, Ramon L Rodriguez, Marie Vidailhet, Emmanuel Roze, Stephen G Reich, Brian D Berman, Mark S LeDoux, Sarah Pirio Richardson, Pinky Agarwal, Zoltan Mari, William G Ondo, Ludy C Shih, Susan H Fox, Alfredo Berardelli, Claudia M Testa, Florence Ching-Fen Cheng, Daniel Truong, Fatta B Nahab, Tao Xie, Mark Hallett, Ami R Rosen, Laura J Wright, Joel S Perlmutter
BACKGROUND: Clinical characteristics of isolated idiopathic cervical dystonia such as onset site and spread to and from additional body regions have been addressed in single-site studies with limited data and incomplete or variable dissociation of focal and segmental subtypes. The objectives of this study were to characterize the clinical characteristics and demographics of isolated idiopathic cervical dystonia in the largest standardized multicenter cohort. METHODS: The Dystonia Coalition, through a consortium of 37 recruiting sites in North America, Europe, and Australia, recruited 1477 participants with focal (60...
October 18, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
G Varela-Fascinetto, C Benchimol, R Reyes-Acevedo, M Genevray, D Bradley, J Ives, H T Silva
This multicenter, open-label study evaluated the tolerability of extended prophylaxis with valganciclovir in pediatric kidney transplant recipients at risk of CMV disease. Fifty-six patients aged 4 months to 16 years received once-daily valganciclovir oral solution and/or tablets, dosed by BSA and renal function, for up to 200 days. The most common AEs on treatment were upper respiratory tract infection (33.9%), urinary tract infection (33.9%), diarrhea (32.1%), leukopenia (25.0%), neutropenia (23.2%), and headache (21...
October 17, 2016: Pediatric Transplantation
Joana Jesus-Ribeiro, António Freire, João Sargento-Freitas, Mário Sousa, Fernando Silva, Fradique Moreira, Maria João Cunha, Uwe Walter, Cristina Januário
BACKGROUND: The diagnosis of Parkinson's disease (PD) can sometimes be a challenge in the early stages of the disease. Both transcranial sonography (TCS) and DaTSCAN are recommended as auxiliary examinations for the differential diagnosis of PD; however, only few data exist regarding their diagnostic accuracy in the early stage of PD and essential tremor (ET). METHODS: We evaluated patients with clinically suspected diagnosis of PD at early stages (Hoehn and Yahr ≤2) or ET...
October 18, 2016: European Neurology
Rainer von Coelln, Lisa M Shulman
PURPOSE OF REVIEW: Recent studies on clinical, genetic and pathological heterogeneity of Parkinson disease have renewed the old debate whether we should think of Parkinson disease as one disease with variations, or as a group of independent diseases that happen to present with similar phenotypes. Here, we provide an overview of where the debate is coming from, and how recent findings in clinical subtyping, genetics and clinico-pathological correlation have shaped this controversy over the last few years...
October 5, 2016: Current Opinion in Neurology
Rachael L Cohen, Russell L Margolis
PURPOSE OF REVIEW: Spinocerebellar ataxia type 12 (SCA12) is a rare autosomal dominant neurodegenerative disease characterized by tremor, gait abnormalities, and neuropsychiatric syndromes. The location of the causative CAG/CTG expansion mutation in PPP2R2B, a gene encoding regulatory units of the protein phosphatase 2A, may provide unique insights into the pathogenesis of neurodegeneration. RECENT FINDINGS: The first neuropathological examination of a brain from an SCA12 patient revealed both cerebellar and cerebral cortical atrophy, with a noted loss of Purkinje cells and no evidence of polyglutamine aggregates...
September 29, 2016: Current Opinion in Neurology
Ali Tafazoli
A 26-year-old woman developed symptoms of acute toxicity during cyclosporine (CsA) therapy for graft-versus-host disease prophylaxis. The standard regimen included CsA in a dose of 1.5 mg/kg (120 mg) every 12 h, but, as a medication error, she received a high dose of 500 mg of oral CsA. After 2 h, she developed nausea and vomiting and, subsequently, flushing, chest tightness, tremor and vertigo. Laboratory and clinical examinations revealed high blood CsA concentrations (1000 ng/mL after 12 h) with a mild increase in blood pressure...
December 2015: Drug Saf Case Rep
Yi Wang, HongBin Liu, Peng Li, Wei Wang
A 40-year-old male who had a severe tremor, bradykinesia, and rigidity for 6 years underwent bilateral subthalamic nucleus (STN) deep brain stimulation (DBS) at our hospital. The patient did not have any prior ischemia events or any risk factors in his medical history. Six and 9 months post-operation, this patient was admitted to the hospital twice for lower left limb involuntary twitching. Two magnetic resonance imaging (MRI) scans showed cerebral ischemia surrounding the implanted electrode. To our knowledge, this is the first case of recurrent cerebral ischemia associated with DBS...
October 15, 2016: Acta Neurochirurgica
Adam M Nagy, Christopher M Tolleson
Deep brain stimulation (DBS) is a unique, functional neurosurgical therapy indicated for medication refractory movement disorders as well as some psychiatric diseases. Multicontact electrodes are placed in "deep" structures within the brain with targets varying depending on the surgical indication. An implanted programmable pulse generator supplies the electrodes with a chronic, high frequency electrical current that clinically mimics the effects of ablative lesioning techniques. DBS's efficacy has been well established for its movement disorder indications (Parkinson's disease, essential tremor, and dystonia)...
October 8, 2016: Brain Sciences
Jisha Myalil Lucca, Madhan Ramesh, Gurumurthy Parthasarathi, Dushad Ram
AIMS/OBJECTIVES: Psychotropic drugs are associated with significant short-term and long-term safety issues which may affect patients' mental health, physical health and cost of care. EXPERIMENTAL DESIGNS: This was a prospective study conducted in psychiatry department of a tertiary care hospital. Study included patients of any age and either sex who presented with psychiatric illness as diagnosed by ICD-10 and were receiving at least one psychotropic agent. The study involved both intensive and spontaneous reporting methods to identify ADRs...
March 1, 2016: Psychopharmacology Bulletin
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