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Parkinson's Disease, neurology, movement disorder

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https://www.readbyqxmd.com/read/29777584/neuropsychiatric-expression-and-catatonia-in-22q11-2-deletion-syndrome-an-overview-and-case-series
#1
Nancy J Butcher, Erik Boot, Anthony E Lang, Danielle Andrade, Jacob Vorstman, Donna McDonald-McGinn, Anne S Bassett
Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11...
May 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29764386/parkinson-s-disease-diagnostic-observations-paddo-study-rationale-and-design-of-a-prospective-cohort-study-for-early-differentiation-of-parkinsonism
#2
Anouke van Rumund, Marjolein B Aerts, Rianne A J Esselink, Frederick J A Meijer, Marcel M Verbeek, Bastiaan R Bloem
BACKGROUND: Differentiation of Parkinson's disease (PD) from the various types of atypical parkinsonism (AP) such as multiple system atrophy (MSA), progressive supranuclear palsy (PSP), dementia with Lewy bodies (DLB), corticobasal syndrome (CBS) and vascular parkinsonism (VP), can be challenging, especially early in the disease course when symptoms overlap. A major unmet need in the diagnostic workup of these disorders is a diagnostic tool that differentiates the various disorders, preferably in the earliest disease stages when the clinical presentation is similar...
May 16, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29756278/sleep-related-motor-and-behavioral-disorders-recent-advances-and-new-entities
#3
REVIEW
David P Breen, Birgit Högl, Alfonso Fasano, Claudia Trenkwalder, Anthony E Lang
Patients with sleep-related motor and behavioral disorders present to a variety of subspecialty clinics (neurology, sleep medicine, respiratory medicine, psychiatry). Diagnosing these disorders can be difficult, and sometimes they have a significant impact on quality of life. Alongside a number of common and well-recognized conditions, several new disease entities have been described in recent years that present with abnormal nocturnal motor phenomena (such as ADCY5-associated disease and anti-IgLON5 disease)...
May 14, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29736737/a-novel-device-for-continuous-monitoring-of-tremor-and-other-motor-symptoms
#4
Luigi Battista, Antonietta Romaniello
The clinical assessment of Parkinson's disease (PD) symptoms is typically performed with neurological examinations and simple motor tests. However, this only takes into account the severity of motor symptoms during the length of the recording and fails to capture variations in a patient's motor state, which change continuously during the day. Most of the current methods for long-term monitoring of extrapyramidal symptoms are based on the use of a wearable magneto-inertial device that evaluates the frequential content of signals in the range of movement disorders...
May 7, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29724603/high-prevalence-of-olfactory-dysfunction-in-cervical-dystonia
#5
Milena Marek, Susanne Linnepe, Christine Klein, Thomas Hummel, Sebastian Paus
INTRODUCTION: Olfactory dysfunction has been established as a frequent non-motor symptom in neurodegenerative and movement disorders such as Parkinson's disease, Alzheimer's disease, and hereditary ataxias. To expand knowledge of non-motor symptoms in dystonia, and to test for a potential endophenotype, we examined olfactory function in cervical dystonia (CD). METHODS: In patients with CD, and neurologically healthy controls, olfactory function was examined by "Sniffin' Sticks", a test of nasal chemosensory function based on pen-like odor dispensing devices...
April 25, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29719720/chinese-expert-consensus-on-programming-deep-brain-stimulation-for-patients-with-parkinson-s-disease
#6
REVIEW
Shengdi Chen, Guodong Gao, Tao Feng, Jianguo Zhang
Background: Deep Brain Stimulation (DBS) therapy for the treatment of Parkinson's Disease (PD) is now a well-established option for some patients. Postoperative standardized programming processes can improve the level of postoperative management and programming, relieve symptoms and improve quality of life. Main body: In order to improve the quality of the programming, the experts on DBS and PD in neurology and neurosurgery in China reviewed the relevant literatures and combined their own experiences and developed this expert consensus on the programming of deep brain stimulation in patients with PD in China...
2018: Translational Neurodegeneration
https://www.readbyqxmd.com/read/29712499/lightning-may-pose-a-danger-to-patients-receiving-deep-brain-stimulation-case-report
#7
Neža Prezelj, Maja Trošt, Dejan Georgiev, Dušan Flisar
Deep brain stimulation (DBS) is an established treatment option for advanced stages of Parkinson's disease and other movement disorders. It is known that DBS is susceptible to strong electromagnetic fields (EMFs) that can be generated by various electrical devices at work, home, and in medical environments. EMFs can interfere with the proper functioning of implantable pulse generators (IPGs). Very strong EMFs can generate induction currents in implanted electrodes and even damage the brain. Manufacturers of DBS devices have issued a list of warnings on how to avoid this danger...
May 1, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29701258/evaluation-of-smartphone-based-testing-to-generate-exploratory-outcome-measures-in-a-phase-1-parkinson-s-disease-clinical-trial
#8
Florian Lipsmeier, Kirsten I Taylor, Timothy Kilchenmann, Detlef Wolf, Alf Scotland, Jens Schjodt-Eriksen, Wei-Yi Cheng, Ignacio Fernandez-Garcia, Juliane Siebourg-Polster, Liping Jin, Jay Soto, Lynne Verselis, Frank Boess, Martin Koller, Michael Grundman, Andreas U Monsch, Ronald B Postuma, Anirvan Ghosh, Thomas Kremer, Christian Czech, Christian Gossens, Michael Lindemann
BACKGROUND: Ubiquitous digital technologies such as smartphone sensors promise to fundamentally change biomedical research and treatment monitoring in neurological diseases such as PD, creating a new domain of digital biomarkers. OBJECTIVES: The present study assessed the feasibility, reliability, and validity of smartphone-based digital biomarkers of PD in a clinical trial setting. METHODS: During a 6-month, phase 1b clinical trial with 44 Parkinson participants, and an independent, 45-day study in 35 age-matched healthy controls, participants completed six daily motor active tests (sustained phonation, rest tremor, postural tremor, finger-tapping, balance, and gait), then carried the smartphone during the day (passive monitoring), enabling assessment of, for example, time spent walking and sit-to-stand transitions by gyroscopic and accelerometer data...
April 27, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29695949/quantifying-motor-impairment-in-movement-disorders
#9
REVIEW
James J FitzGerald, Zhongjiao Lu, Prem Jareonsettasin, Chrystalina A Antoniades
Until recently the assessment of many movement disorders has relied on clinical rating scales that despite careful design are inherently subjective and non-linear. This makes accurate and truly observer-independent quantification difficult and limits the use of sensitive parametric statistical methods. At last, devices capable of measuring neurological problems quantitatively are becoming readily available. Examples include the use of oculometers to measure eye movements and accelerometers to measure tremor...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29665080/clustering-of-motor-and-nonmotor-traits-in-leucine-rich-repeat-kinase-2-g2019s-parkinson-s-disease-nonparkinsonian-relatives-a-multicenter-family-study
#10
Tiago A Mestre, Claustre Pont-Sunyer, Farah Kausar, Naomi P Visanji, Taneera Ghate, Barbara S Connolly, Carmen Gasca-Salas, Drew S Kern, Jennifer Jain, Elizabeth J Slow, Achinoam Faust-Socher, Meike Kasten, Pettarusp M Wadia, Cindy Zadikoff, Prakash Kumar, Ronald M de Bie, Teri Thomsen, Anthony E Lang, Birgitt Schüle, Christine Klein, Eduardo Tolosa, Connie Marras
OBJECTIVES: The objective of this study was to determine phenotypic features that differentiate nonparkinsonian first-degree relatives of PD leucine-rich repeat kinase 2 (LRRK2) G2019S multiplex families, regardless of carrier status, from healthy controls because nonparkinsonian individuals in multiplex families seem to share a propensity to present neurological features. METHODS: We included nonparkinsonian first-degree relatives of LRRK2 G2019S familial PD cases and unrelated healthy controls participating in established multiplex family LRRK2 cohorts...
April 17, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29608779/interdisciplinary-home-visits-for-individuals-with-advanced-parkinson-s-disease-and-related-disorders
#11
Jori Fleisher, William Barbosa, Meghan M Sweeney, Sarah E Oyler, Amy C Lemen, Arash Fazl, Mia Ko, Talia Meisel, Naomi Friede, Geraldine Dacpano, Rebecca M Gilbert, Alessandro Di Rocco, Joshua Chodosh
Parkinson's disease (PD) is a complex, multisymptom, neurodegenerative disease affecting primarily older adults. With progression, many individuals become homebound and removed from coordinated, expert care, resulting in excess morbidity, mortality, and healthcare expenditures in acute care settings and institutions. Home visit care models have achieved the triple aim of improving individual and population health while reducing costs in many frail, community-dwelling geriatric cohorts. This study details a novel, interdisciplinary home visit program specifically designed for individuals with PD and related disorders and their family caregivers built upon best practice principles in the care of multimorbid older adults...
April 2, 2018: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/29597014/fatigue-in-parkinson-s-disease-metric-properties-of-the-fatigue-impact-scale-for-daily-use-d-fis-and-its-impact-on-quality-of-life
#12
Marcos Serrano-Dueñas, Rosaura Bravo, Tamara Merchán, Maite Serrano
OBJECTIVE: In Parkinson's disease patients, fatigue is a disabling non-motor symptom whose prevalence ranges from 28% to 58%. The Fatigue Impact Scale for Daily Use (D-FIS), one of the various scales for quantifying fatigue. The aim of our study was to analyze the metric properties of the D-FIS in PD subjects and assess the impact of fatigue on their quality of life. PATIENTS AND METHODS: The cohort in this study was comprised of 211 consecutive patients with a PD diagnosis regularly followed up at the Movement Disorders Unit of the Neurology Department at Carlos Andrade Marín Hospital (HCAM) in Quito, Ecuador, according to the United Kingdom PD Society Brain Bank criteria...
March 22, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29578489/rem-sleep-behavior-disorder-and-alzheimer-s-disease-definitely-no-relationship
#13
Andrea Galbiati, Giulia Carli, Michael Hensley, Luigi Ferini-Strambi
Rapid eye movement (REM) sleep behavior disorder (RBD) is a REM sleep parasomnia characterized by the loss of the typical muscular atonia present during healthy REM sleep. RBD can occur in the absence of other neurological conditions or in association with a neurodegenerative disorder. It is now well established that RBD is a strong predictor of neurodegeneration, in particular synucleinopathies, such as Parkinson's disease, Lewy body dementia (LBD), or multiple system atrophy. However, some longitudinal studies report that a minority of patients develop either overlapping form of dementia or Alzheimer disease's (AD)...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29571869/prevalence-of-functional-psychogenic-parkinsonism-in-two-swiss-movement-disorders-clinics-and-review-of-the-literature
#14
Giulia Frasca Polara, Vanessa Fleury, Jon Stone, Anita Barbey, Pierre R Burkhard, François Vingerhoets, Selma Aybek
BACKGROUND: Functional parkinsonism (FP) is considered rare but no studies have looked at its frequency. Case series have described high rates of comorbidity with Parkinson's disease (PD), suggesting a possible association between these conditions. OBJECTIVES: To study the prevalence, epidemiology and clinical features of FP and its association with PD. METHODS: We conducted a cross-sectional population-based prevalence study as well as a chart review of cases who received a diagnosis of FP over a 10-year-period in two movement disorder clinics in Switzerland...
April 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29564144/spinocerebellar-ataxia-17-full-phenotype-in-a-41-cag-caa-repeats-carrier
#15
Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Background: Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein ( TBP ) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29559949/impaired-quality-of-life-and-need-for-palliative-care-in-a-german-cohort-of-advanced-parkinson-s-disease-patients
#16
Martin Klietz, Amelie Tulke, Lars H Müschen, Lejla Paracka, Christoph Schrader, Dirk W Dressler, Florian Wegner
Background: Parkinson's disease (PD) is the second most frequent neurodegenerative disease of the elderly. Patients suffer from various motor and non-motor symptoms leading to reduced health-related quality of life (HRQOL) and an increased mortality. Their loss of autonomy due to dementia, psychosis, depression, motor impairments, falls, and swallowing deficits defines a phase when palliative care interventions might help to sustain or even improve quality of life. Objective: The aim of this study was to investigate the current status of palliative care implementation and quality of life in a local cohort of advanced PD patients in order to frame and improve future care...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29549192/functional-neurological-disorders-in-parkinson-disease
#17
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
https://www.readbyqxmd.com/read/29503326/tremor-syndromes-a-review
#18
REVIEW
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
https://www.readbyqxmd.com/read/29503325/parkinson-s-disease-a-review
#19
REVIEW
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
https://www.readbyqxmd.com/read/29488275/evaluation-of-salivary-heme-oxygenase-1-as-a-potential-biomarker-of-early-parkinson-s-disease
#20
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...
April 2018: Movement Disorders: Official Journal of the Movement Disorder Society
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