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parkinson plus syndrome

Carlos Guevara, Katherina Bulatova, Gareth J Barker, Guido Gonzalez, Nicolas A Crossley, Matthew J Kempton
BACKGROUND: The absence of markers for ante-mortem diagnosis of progressive supranuclear palsy (PSP), results in this disorder being commonly mistaken for other conditions, such as idiopathic Parkinson's disease (IPD). Such mistakes occur particularly in the initial stages, when "plus syndrome" has not yet clinically emerged. OBJECTIVE: To investigate the global brain volume and tissue loss in patients with PSP relative to patients with IPD and healthy controls and correlations between clinical parameters and magnetic resonance imaging (MRI)-derived brain volume estimates...
2016: Frontiers in Aging Neuroscience
Shlomit Yust Katz, Ronly Hershkovitz, Tanya Gurevich, Ruth Djaldetti
OBJECTIVE: Pain is one of the most common non-motor symptoms of Parkinson disease (PD) and other Parkinson plus syndromes, with a major effect on quality of life. The aims of the study were to examine the prevalence and characteristics of pain in PD and other Parkinson plus syndromes and patient use and response to pain medications. METHODS: The cohort consisted of 371 patients: 300 (81%) with PD and 71 (19%) with Parkinson plus syndromes. Data on clinical parameters and pain were collected by questionnaire...
September 10, 2016: Clinical Journal of Pain
C Tranchant, M Anheim
Mitochondrial diseases (MIDs) are a large group of heterogeneous disorders due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) genes, the latter encoding proteins involved in mitochondrial function. A multisystem clinical picture that involves several organs, including both the peripheral and central nervous systems, is a common presentation of MID. Movement disorders, even isolated ones, are not rare. Cerebellar ataxia is common in myoclonic epilepsy with ragged red fibers (MERFF) due to mutations in the mitochondrial transfer RNA (tRNA) lysine gene, in Kearns-Sayre syndrome due to mtDNA deletions, in sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) due to nuclear POLG1 gene mutations, and also in ARCA2, Friedreich's ataxia, SPG7, SCA28 and autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) due to mutations in nuclear genes involved in mitochondrial morphology or function...
August 2016: Revue Neurologique
Karolien Goffin, Koen van Laere
Single-photon emission computed tomography (SPECT) is a functional nuclear imaging technique that allows visualization and quantification of different in vivo physiologic and pathologic features of brain neurobiology. It has been used for many years in diagnosis of several neurologic and psychiatric disorders. In this chapter, we discuss the current state-of-the-art of SPECT imaging of brain perfusion and dopamine transporter (DAT) imaging. Brain perfusion SPECT imaging plays an important role in the localization of the seizure onset zone in patients with refractory epilepsy...
2016: Handbook of Clinical Neurology
Michael H Smolensky, Ramon C Hermida, Alain Reinberg, Linda Sackett-Lundeen, Francesco Portaluppi
Biological processes are organized in time as innate rhythms defined by the period (τ), phase (peak [Φ] and trough time), amplitude (A, peak-trough difference) and mean level. The human time structure in its entirety is comprised of ultradian (τ < 20 h), circadian (20 h > τ < 28 h) and infradian (τ > 28 h) bioperiodicities. The circadian time structure (CTS) of human beings, which is more complicated than in lower animals, is orchestrated and staged by a brain central multioscillator system that includes a prominent pacemaker - the suprachiasmatic nuclei of the hypothalamus...
2016: Chronobiology International
Garima Shukla, Bhavna Kaul, Anupama Gupta, Vinay Goyal, Madhuri Behari
BACKGROUND: Circadian rhythm sleep disorder-advanced sleep-phase type is a relatively uncommon disorder, mostly seen among the elderly population. Impaired circadian rhythms have been reported in neurodegenerative conditions; however, there are no reports of any circadian rhythm sleep disorder among patients with Parkinsonian syndromes. We report two patients who presented with this circadian rhythm disorder, and were then diagnosed with a Parkinsonian syndrome. The cases. A 65-year-old retired man presented with history of abrupt change in sleep schedules, sleeping around 6...
September 2015: National Medical Journal of India
Emil K Gustavsson, Joanne Trinh, Ilaria Guella, Chelsea Szu-Tu, Jaskaran Khinda, Chin-Hsien Lin, Ruey-Meei Wu, Jon Stoessl, Silke Appel-Cresswell, Martin McKeown, Alex Rajput, Ali H Rajput, Maria Skaalum Petersen, Beom S Jeon, Jan O Aasly, Matthew J Farrer
INTRODUCTION: Mutations in dynactin DCTN1 (p150(glued)) have previously been linked to familial motor neuron disease or Perry syndrome (PS) consisting of depression, parkinsonism and hypoventilation. METHODS: We sequenced DCTN1 in 636 Caucasian patients with parkinsonism (Parkinson's disease and Parkinson-plus syndromes) and 508 healthy controls. Variants (MAF < 0.01) were subsequently genotyped in Caucasian (1360 cases and 1009 controls) and Asian cohorts (1046 cases and 830 controls), and the functional implications of pathogenic variants were assessed...
July 2016: Parkinsonism & related Disorders
Sudheeran Kannoth, Anandkumar Anandakkuttan, Annamma Mathai, Anuja Nirmala Sasikumar, Vivek Nambiar
BACKGROUND: Immunological causes of atypical parkinsonism/Parkinson plus syndromes are rare. OBJECTIVE: To study the clinical and laboratory features and treatment outcome of autoimmune atypical parkinsonism. METHODS: Retrospective case series. Patients with atypical parkinsonism and positive antibodies were identified retrospectively. Those who received immunotherapy (intravenous methyl prednisolone 1g daily for five days followed by mycophenylate mofetil 2g daily or azathioprine 2-3mg/kg/day) and consented for publication of non-anonymized videos were included...
March 15, 2016: Journal of the Neurological Sciences
P Gao, P-Y Zhou, G Li, G-B Zhang, P-Q Wang, J-Z Liu, F Xu, F Yang, X-X Wu
OBJECTIVE: To assess the imaging features of nigrosomes-1 in the substantia nigra through 3T MR susceptibility weighted imaging (SWI) and its disease-specific changes for the diagnosis of Parkinson's disease (PD). PATIENTS AND METHODS: A total of 116 subjects were included in this study and allocated into 3 groups: 54 patients diagnosed with PD were assigned to the PD group, 51 age- and sex-matched volunteers without PD served as the control N-PD group, and 11 clinically suspected PD patients were allocated to the undiagnosed (UD) group...
December 2015: European Review for Medical and Pharmacological Sciences
Richard M Zweig, Elizabeth A Disbrow, Vijayakumar Javalkar
Parkinsonian syndromes share clinical signs including akinesia/bradykinesia and rigidity, which are consequences of pathology involving dopaminergic substantia nigra neurons. Yet cognitive and psychiatric disturbances are common, even early in the course of disease. Executive dysfunction is often measurable in newly diagnosed Parkinson's disease. Treatment with dopaminergic medications, particularly dopamine agonists, has been associated with hallucinations and impulse control disorder. Older age, presence of APOE-4 gene, and/or other factors result in amyloid plaque deposition that, in turn, accelerates cortical Lewy body plus tau pathology, linking Dementia with Lewy Bodies and Parkinson's disease with early dementia with Alzheimer's disease...
February 2016: Neurologic Clinics
Antonio Suppa, Flavio Di Stasio, Luca Marsili, Neeraj Upadhyay, Daniele Belvisi, Antonella Conte, Nicola Modugno, Carlo Colosimo, Alfredo Berardelli
Whether the primary motor cortex (M1) contributes to the pathophysiology of corticobasal syndrome (CBS) remains unclear. In this study in patients with probable CBS, we tested whether M1 plasticity contributes to the pathophysiology of symptoms in the contralateral "less affected" limb, manifesting only parkinsonism, and in the contralateral "more affected" limb, manifesting parkinsonism plus other motor and nonmotor symptoms. In Experiment 1, we applied intermittent/continuous theta-burst stimulation (iTBS/cTBS) over the M1 contralateral to the less affected limb in 17 patients...
February 1, 2016: Journal of Neurophysiology
Richard E Gregg, Sophia H Zhou, Anne M Dubin
BACKGROUND: With increased interest in screening of young people for potential causes of sudden death, accurate automated detection of ventricular pre-excitation (VPE) or Wolff-Parkinson-White syndrome (WPW) in the pediatric resting ECG is important. Several recent studies have shown interobserver variability when reading screening ECGs and thus an accurate automated reading for this potential cause of sudden death is critical. We designed and tested an automated algorithm to detect pediatric VPE optimized for low prevalence...
January 2016: Journal of Electrocardiology
Lama M Chahine, Daniel Weintraub, Keith A Hawkins, Andrew Siderowf, Shirley Eberly, David Oakes, John Seibyl, Matthew B Stern, Kenneth Marek, Danna Jennings
OBJECTIVES: The Parkinson Associated Risk Syndrome Study identified a cohort of healthy adults with hyposmia and dopamine transporter binding reduction to characterize individuals at risk for Parkinson's disease (PD). We describe the cognitive profile of this cohort. METHODS: Individuals older than 50 y without PD were recruited. Two hundred twenty-five completed cognitive testing and were included in the final analysis. A neuropsychological test battery was administered and normative scores created for global cognition, memory, executive function/working memory, processing speed/attention, visuospatial abilities, and language domains...
January 2016: Movement Disorders: Official Journal of the Movement Disorder Society
Rikitha Menezes, Alexander Pantelyat, Izlem Izbudak, Julius Birnbaum
Patients with rheumatic diseases can present with movement and other neurodegenerative disorders. It may be underappreciated that movement and other neurodegenerative disorders can encompass a wide variety of disease entities. Such disorders are strikingly heterogeneous and lead to a wider spectrum of clinical injury than seen in Parkinson's disease. Therefore, we sought to stringently phenotype movement and other neurodegenerative disorders presenting in a case series of rheumatic disease patients. We integrated our findings with a review of the literature to understand mechanisms which may account for such a ubiquitous pattern of clinical injury...
August 2015: Medicine (Baltimore)
Sunil Pradhan, Ruchika Tandon
OBJECTIVES: Cardinal extrapyramidal features of progressive supranuclear palsy (PSP) help in clinically differentiating this condition from Parkinson's disease and other Parkinsonian syndromes. However, not all extrapyramidal features may be initially present, thus posing a difficulty in early diagnosis. We studied their frequency at the time of first presentation. METHODS: Patients diagnosed clinically with PSP using the National Institute for Neurological Disorders and Society for PSP (NINDS/SPSP) criteria and seen between August 2010 and April 2013 were examined for the presence, 'presence with deviation' or absence of six extrapyramidal features: axial rigidity, symmetry, extended posture, backward falls, absence of tremors and lack of levodopa response...
May 2015: Postgraduate Medical Journal
Hyeyoung Park, Jee Young Lee, Cheol Min Shin, Jong-Min Kim, Tae Jeong Kim, Ji Won Kim
OBJECTIVES: This study was aimed to investigate gastrointestinal (GI) dysfunction in patients with Parkinson's disease (PD) compared with those in patients with other parkinsonian disorders, and to characterize parkinsonian motor and non-motor correlates for GI dysfunction. METHODS: Consecutive patients with PD, atypical parkinsonism (P-plus) and vascular parkinsonism (VP) were enrolled in this multicenter systematic survey. Data for weight loss, appetite loss, sialorrhea, dysphagia, gastroesophageal reflux disease (GERD) and constipation were simultaneously collected using symptom-specific, structured questionnaires...
May 2015: Parkinsonism & related Disorders
Aline Verstraeten, Jessie Theuns, Christine Van Broeckhoven
Parkinson disease (PD) and Parkinson-plus syndromes are genetically heterogeneous neurological diseases. Initial studies into the genetic causes of PD relied on classical molecular genetic approaches in well-documented case families. More recently, these approaches have been combined with exome sequencing and together have identified 15 causal genes. Additionally, genome-wide association studies (GWASs) have discovered over 25 genetic risk factors. Elucidation of the genetic architecture of sporadic and familial parkinsonism, however, has lagged behind that of simple Mendelian conditions, suggesting the existence of features confounding genetic data interpretation...
March 2015: Trends in Genetics: TIG
Jordi A Matias-Guiu, María Nieves Cabrera-Martín, Teresa Moreno-Ramos, Rocío García-Ramos, Jesús Porta-Etessam, José Luis Carreras, Jorge Matías-Guiu
Primary progressive aphasia (PPA) may be the onset of several neurodegenerative diseases. This study evaluates a cohort of patients with PPA to assess their progression to different clinical syndromes, associated factors that modulate this progression, and patterns of cerebral metabolism linked to different clinical evolutionary forms. Thirty-five patients meeting PPA criteria underwent a clinical and neuroimaging (18)F-Fluorodeoxyglucose PET evaluation. Survival analysis was performed using time from clinical onset to the development of a non-language symptom or deficit (PPA-plus)...
March 2015: Journal of Neurology
Navamayooran Thavanesan, Martin Gillies, Michael Farrell, Alex L Green, Tipu Aziz
Deep brain stimulation (DBS) is approved for idiopathic Parkinson's disease (IPD) but has a poor evidence base in Parkinson-plus syndromes such as multiple system atrophy (MSA). We describe the clinical and neuropathological findings in a man who was initially diagnosed with IPD, in whom DBS was unsuccessful, and in whom MSA was unexpectedly diagnosed at a subsequent autopsy. This case report highlights that DBS is often unsuccessful in MSA and also demonstrates that MSA can masquerade as IPD, which may explain treatment failure in a small group of patients apparently suffering from Parkinson's disease...
September 2014: Case Reports in Neurology
Andrew Young Chang, Erica Weirich
Progressive supranuclear palsy (PSP) is a progressive, debilitating neurodegenerative disease of the Parkinson-plus family of syndromes. Unfortunately, there are no pharmacologic treatments for this condition, as most sufferers of the classic variant respond poorly to Parkinson medications such as levodopa. Zolpidem, a gamma aminobutyric acid (GABA) agonist specific to the α-1 receptor subtype, has been reported to show improvements in symptoms of PSP patients, including motor dysfunction, dysarthria, and ocular disturbances...
2014: Case Reports in Medicine
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