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Hack Nawaz N Center for Movement Disorders & Neurorestoration, University of Florida College of Medicine, Gainesville, FL, - - 2014
Background: Impulse control disorders (ICDs), dopamine dysregulation syndrome (DDS), and dopamine agonist withdrawal syndrome (DAWS) have been reported commonly in Parkinson's disease (PD) populations. The treatment approaches may be widely variable and there is not much information on these syndromes in the setting of deep brain stimulation (DBS). Objective: To ...
Mathis S S Department of Neurology, CHU Poitiers, University of Poitiers, 2 rue de la Milétrie, 86021 Poitiers, - - 2014
Chediak-Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, recurrent pyogenic infections and the presence of giant granules in many cells such as leucocytes (hallmark of the disease). Neurological symptoms are rare. We describe two sisters who presented the same phenotype of slowly progressive motor neuronopathy ...
Szczesna Karolina K Cancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet, Barcelona, Catalonia, - - 2014
Rett Syndrome is a neurodevelopmental autism spectrum disorder caused by mutations in the gene coding for methyl CpG-binding protein (MeCP2). The disease is characterized by abnormal motor, respiratory, cognitive impairment, and autistic-like behaviors. No effective treatment of the disorder is available. Mecp2 knockout mice have a range of physiological and ...
Garcia-Cazorla A A Department of Neurology, Hospital Sant Joan de Déu (HSJD), Barcelona, Spain, - - 2014
Parkinsonism is a frequent neurological syndrome in adulthood but is very rare in childhood. Early forms of Parkinsonism have many distinctive features as compared to Parkinsonism in adults. In fact, rather than Parkinsonism, the general concept "hypokinetic-rigid syndrome" (HRS) is more accurate in children. In general, the terms "dystonia-parkinsonism", "parkinsonism-plus", ...
St Louis Erik K EK From the Mayo Center for Sleep Medicine (E.K.S.L.), Departments of Neurology and Medicine, Mayo Clinic and Foundation, Rochester, MN; and Department of Public Health and Clinical Medicine (J.U.), Umeå University Hospital, - - 2014
Restless legs syndrome (RLS)/Willis-Ekbom disease (WED) affects 5% to 10% of the population and occurs more frequently in women, with a family history in half of patients. RLS/WED results in sleep disruption, impaired quality of life, and reduced daytime productivity; its hallmarks include an irresistible urge to move the legs ...
Joutsa Juho J Turku PET Centre, University of Turku and Turku University Hospital, Turku, Finland; Department of Neurology, Satakunta Central Hospital, Pori, Finland. Electronic address: - - 2014
Movement disorder specialists can achieve a high level of accuracy when clinically diagnosing parkinsonism syndromes. However, data about the diagnostic accuracy among general neurologists is limited. This study investigated the recent diagnostic accuracy of parkinsonism syndromes by general neurologists. A retrospective examination of 1362 post-mortem cases diagnosed in the years ...
Tosun Ayşe A 1Department of Neurology, Medical Faculty, Adnan Menderes University, Aydin, - - 2014
Guillain-Barré syndrome is an acute inflammatory autoimmune polyradiculoneuritis. Progressive motor weakness and areflexia are essential for its diagnosis. Hyperreflexia has rarely been reported in the early healing period of Guillain-Barré syndrome following Campylobacter jejuni infection in patients with acute motor axonal neuropathy with antiganglioside antibody positivity. In this study, we ...
Earley Christopher J CJ From the Department of Neurology, Johns Hopkins Bayview Medical Center, Baltimore, - - 2014
Restless legs syndrome (RLS) is a common disorder that can have a considerable impact on a patient's functioning and quality of life. The pharmacologic armamentarium for RLS contains dopamine agonists, a-2d ligands, and opioids, among other agents. Each of these types of drugs has strengths and limitations, and treatment selection ...
Bektaş Hesna H Department of Neurology, Atatürk Training and Research Hospital, Ankara, - - 2014
Rhabdomyolysis is a life threatening syndrome. It accounts for an estimated 8% to 15% of cases of acute renal failure and is associated with a mortality rate of 5%. In movement disorders, various causes of rhabdomyolysis have been reported including status dystonicus, myoclonus, generalized chorea and parkinsonism-hyperprexia syndrome in Parkinson's ...
Holtbernd Florian F Center for Neurosciences, The Feinstein Institute for Medical Research, Manhasset, New - - 2014
The differential diagnosis of parkinsonian syndromes can be challenging, particularly in early disease stages. However, prognosis and therapeutic regimes are not alike in Parkinson disease and atypical parkinsonism, and thus a correct diagnosis at the earliest possible stage is desirable. Over the past two decades, magnetic resonance imaging and radiotracer-based ...
Ng Joanne J 1 Neurosciences Unit, UCL Institute of Child Health, London, - - 2014
Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' to be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified a new cohort of patients with dopamine transporter deficiency syndrome, including, most significantly, atypical presentation later in ...
Galati Salvatore S Department of Neurology, Neurocenter of Southern Switzerland, Lugano, - - 2014
Pisa syndrome (PS), also known as pleurothotonus, is an abnormal posture characterized by lateral flexion of the trunk that typically disappears in supine position. In Parkinson disease (PD), an abnormal forward flexion of the trunk (defined as camptocormia) is a common observation and has been interpreted as a sign of ...
Manckoundia Patrick P Service de médecine interne gériatrie, Hôpital de Champmaillot, CHU, Dijon, France, Inserm U1093, Motricité-plasticité : performance, dysfonctionnement, vieillissement et technologies d'optimisation, Université de Bourgogne, Dijon, - - 2014
Psychomotor disadaptation syndrome (PDS) was first described in France by the Dijon geriatric school, 25 years ago, and named "psychomotor regression syndrome". The initial clinical description still remains without modifications. However, progress has been made both in understanding its physiopathology and management, and its name has been changed into PDS ...
Ondo William G WG From the Department of Neurology, University of Texas Health Science Center, - - 2014
Restless legs syndrome (RLS) is a common sensory motor disorder characterized by the urge to move a leg, which worsens with physical and cognitive inactivity, particularly in the evening and at night, but transiently improves with activity. A number of diseases have symptoms that are often confused with those of ...
Erden Ismail I Clinic of Cardiology, Kartal Koşuyolu Heart and Research Hospital; İstanbul-Turkey. - - 2014
Restless legs syndrome (RLS) is a common sleep disorder in which patients feel unpleasent leg sensations and urge to move the legs during rest, especially at night, and symptoms are improved by leg movement. Prior studies analyzing the associations between cardiovascular disease and restless legs syndrome has shown controversial results. ...
Yang Jin Seo JS Department of Neurosurgery, Chuncheon Sacred Heart Hospital, College of Medicine, Hallym University, Chuncheon, - - 2014
The restless legs syndrome (RLS) is a common disorder affecting up to 5% to 15% of the general population, in which the incidence increases with age, and includes paresthesia in the legs. The purpose of this study is to investigate the incidence of RLS in spine center and to review ...
Miletić Vladimir V Department of Neurology, University of Zagreb, School of Medicine and University Hospital Centre Zagreb, Kišpatićeva 12, 10000, Zagreb, Croatia, - - 2014
The term "acquired hepatocerebral degeneration" (AHD) was coined to describe clinical entity distinct from genetically defined Wilson's disease. AHD is chronic neurological disorder, characterized by extrapyramidal and neuropsychiatric symptoms accompanied with advanced liver disease with portosystemic shunts. In majority of AHD cases, extrapyramidal symptoms appear in the presence of known ...
Marschik Peter B - - 2013
Abstract The assessment of General Movements (GMs), i.e. age-specific motor patterns during the first months of life, has repeatedly proven to be a valuable tool to predict neurodevelopmental outcomes. Abnormal spontaneous GMs were found to be among the most reliable markers for cerebral palsy. To add to the knowledge of ...
Arora Alok - - 2013
The parkinsonism hyperpyrexia syndrome is a rare but potentially fatal complication seen in patients with Parkinson's disease. It is characterized by mental status changes, muscle rigidity, hyperthermia and autonomic dysfunction. Mortality of up to 4% has been reported but an additional one-third of patients have permanent sequelae.
Vishnu Venugopalan Y - - 2013
Unilateral isolated abducens palsy can occur due to any lesion from pons to orbit. The precise localization is made through the associated neurological signs. Parkinson syndrome is a symptom complex of unilateral abducens palsy with ipsilateral postganglionic Horner syndrome localizing the lesion to posterior cavernous sinus. We describe here a ...
Mehanna R - - 2013
Fragile X-associated tremor ataxia syndrome (FXTAS) is a relatively recently described condition that is frequently misdiagnosed as essential tremor and then occasionally treated as such with deep brain stimulation (DBS) to the nucleus ventralis intermedius of the thalamus (Vim). Reports of ataxia worsening after bilateral Vim DBS in FXTAS patients ...
Giannaki Christoforos D - - 2013
Restless legs syndrome (RLS) (or Willis-Ekbom disease) is a neurological disorder with high prevalence among the end-stage renal disease population. This is one of the most predominant types of secondary RLS, and it is called uremic RLS. Despite the fact that uremic RLS has been less studied compared to idiopathic ...
Ticozzi Nicola - - 2013
Expansion of a GGGGCC repeat (RE) in the C9orf72 gene has been recently reported as the main genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Given the growing evidence of genetic and clinicopathologic overlap among ALS, FTD, and other neurodegenerative diseases, we investigated the occurrence of RE ...
Bandettini Di Poggio Monica - - 2013
The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder characterized by progressive pontobulbar palsy, sensorineural deafness and mixed spinal and upper motor neuropathy. Mutations in the C20orf54 gene have been linked to the disease and recently we reported the first Italian case of a BVVLS family with an intriguing ...
Santa María Lorena - - 2013
Carriers of an FMR1 premutation allele (55-200 CGG repeats) often develop the neurodegenerative disorders, fragile X-associated tremor/ataxia syndrome (FXTAS). Neurological signs of FXTAS, parkinsonism and rapid onset of cognitive decline have not been reported in individuals with an unmethylated FM. Here, we report a Chilean family affected with FXS, inherited ...
Badzek Sasa - - 2013
Objectives: To refresh clinical diagnostic dilemmas in patients presenting with symptoms resembling to those of parkinsonism, to report rare association of colon cancer and paraneoplastic stiff person syndrome (SPS), and to draw attention on the possible correlation of capecitabine therapy with worsening of paraneoplastic SPS. Case report of the patient ...
Luigetti Marco - - 2013
to determine the prevalence of restless legs syndrome (RLS) in a cohort of patients with demyelinating neuropathies. Patients were retrospectively recruited from our cohort of different forms of demyelinating neuropathies, including chronic inflammatory demyelinating neuropathy (CIDP), Charcot-Marie-Tooth 1A (CMT1A), and hereditary neuropathy with liability to pressure palsies (HNPP) referred to ...
Silber Michael H MH Center for Sleep Medicine and Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA. - - 2013
Restless legs syndrome (RLS)/Willis-Ekbom disease (WED) is a common disorder, occurring at least twice a week and causing at least moderate distress in 1.5% to 2.7% of the population. It is important for primary care physicians to be familiar with this disorder and its management. Much has changed in its ...
Han Su-Hyun - - 2013
Although restless legs syndrome (RLS) and akathisia have similar clinical manifestations and seem to share a common pathophysiology, they are regarded as distinct clinical syndromes. We present three patients with acute pontine infarction and RLS or akathisia as clinical manifestations. They presented with abrupt onset of restlessness of various body ...
Ahmad Fateh - - 2013
Multisutural craniosynostosis as seen in Crouzon's syndrome can result in raised intracranial pressure, Chiari malformation (CM) and syringomyelia. Posterior calvarial distraction (PD) is a technique for addressing cranio-cephalic disproportion, and this case report describes the reversal of both CM and syrinx in a 6-year-old child who underwent PD initially for ...
Elble Rodger J RJ Department of Neurology, Southern Illinois University School of Medicine, PO Box 19643, Springfield, IL 62794-9643, USA. - - 2013
Classic essential tremor is a clinical syndrome of action tremor in the upper limbs (at least 95 % of patients) and less commonly the head, face/jaw, voice, tongue, trunk, and lower limbs, in the absence of other neurologic signs. However, the longstanding notion that essential tremor is a monosymptomatic tremor ...
Moro Adriana - - 2013
BACKGROUND: Unusual delusional syndromes are rare protean diseases with speculative etiopathogenic mechanisms. METHODS: Seven consecutive patients with advanced PD were evaluated over a 15-year period at the Movement Disorders Unit in the Neurology Service, Hospital de Clínicas, Federal University of Paraná, and the Paraná State Parkinson's Patients Association. RESULTS: We ...
Wadia Pettarusp M - - 2013
Objectives: To study different radiological signs and sequences including apparent diffusion coefficient (ADC) and gradient echo (GRE) to differentiate degenerative parkinsonian syndromes. Background: Multiple system atrophy (MSA), Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CbD) differ in the pattern of neurodegeneration and cellular damage. Measuring the ADC, ...
Sinha Nihal - - 2013
Impulse control disorders (ICDs) and apathy are recognized as two important neuropsychiatric syndromes associated with Parkinson's disease (PD), but as yet we understand very little about the cognitive mechanisms underlying them. Here, we review emerging findings, from both human and animal studies, that suggest that impulsivity and apathy are opposite ...
Aji B M - - 2013
A patient with a mood disorder and a Parkinsonian syndrome with frontal cognitive impairment thought to resemble progressive supranuclear palsy defied precise diagnosis until the development of respiratory compromise, prompting consideration of the diagnosis of Perry syndrome. A mutation in the dynactin 1 gene confirmed the diagnosis. Few examples of ...
Ellul Mark A - - 2013
We report a 53-year-old woman who developed a reversible, L-dopa responsive parkinsonian syndrome in the context of a recurrent right-sided subdural haematoma. The syndrome occurred during a prolonged stay in hospital and resolved completely during the following year. Parkinsonism is a rare but recognised complication of subdural haematoma.
Hagen Marleen A - - 2013
Fetal Akinesia Deformation Sequence (FADS) is a phenotype which is characterized by fetal akinesia/hypokinesia, joint contractures, facial anomalies and pulmonary hypoplasia. Hypokinetic movements in the fetus together with contractures in the extremities can be caused by a variable number of underlying disorders (1) . Careful examination of the various structural ...
Bruns Marla B - - 2013
Abstract Corticobasal syndrome (CBS) and progressive supranuclear palsy syndrome (PSPS) are two of the atypical Parkinsonism syndromes, in that patients exhibit rigidity, occasional tremor and postural instability, but do not symptomatically respond to dopamine replacement. CBS and PSPS can often present with complex cognitive difficulties and neuropsychiatric disturbances. Symptoms of ...
Doherty Karen M - - 2013
BACKGROUND: Although Pisa syndrome and scoliosis are sometimes used interchangeably to describe a laterally flexed postural deviation in Parkinson's disease (PD), the imaging findings of Pisa syndrome in PD have not been previously studied in detail. METHODS: Patients with PD and Pisa syndrome (lateral flexion >10° in the standing position) ...
Nessim Sharon J - - 2013
In patients on peritoneal dialysis (PD), a strong inter-relationship exists between the peritoneal membrane and the kidney. This Perspectives article will focus on the mechanisms by which alterations in peritoneal membrane function may influence residual renal function and vice versa. In addition, it will discuss how exposure to PD solutions ...
Silva Francisca - - 2013
Purpose:Fragile X-associated tremor/ataxia syndrome is a late-onset neurodegenerative disorder that occurs in FMR1 premutation carriers. It is well known that the apolipoprotein E ε4 allele is a risk factor for neurodegenerative disease. The main goal of this work was to evaluate the apolipoprotein E genotypes and allelic distribution among patients ...
Urasaki Eiichirou - - 2013
Neuroleptic malignant syndrome (NMS), also called parkinsonism-hyperpyrexia syndrome (PHS), is a severe, general, sometimes fatal, physical reaction, induced by sudden and strong blockade of dopamine receptors. When subthalamic nucleus (STN)-deep brain stimulation (DBS) is used on patients with Parkinson disease (PD), dopaminergic medications are transiently stopped prior to the procedure, ...
Liu Ying - - 2013
BACKGROUND: Standardized screening tools for Parkinson syndrome have not been developed for non-western populations. This study aimed to validate the Copiah County questionnaire (CCQ) as a screening instrument in a Chinese rural population. METHODS: All participants of a previously reported prevalent study were interviewed using CCQ. The participants who answered ...
Dimachkie Mazen M MM Department of Neurology, University of Kansas Medical Center, 3599 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA. - - 2013
Guillain-Barré syndrome (GBS) is characterized by rapidly evolving ascending weakness, mild sensory loss, and hyporeflexia or areflexia. Acute inflammatory demyelinating polyneuropathy was the first to be recognized over a century ago and is the most common form of GBS. Axonal motor and sensorimotor variants have been described in the last ...
Kobylecki Christopher C Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK. - - 2013
Microglial activation has been implicated in the pathogenesis of Parkinson's disease (PD) and atypical parkinsonian syndromes, and regional microstructural changes have been identified using diffusion-weighted MR imaging. It is not known how these two phenomena might be connected. We hypothesized that changes in regional apparent diffusion coefficient (rADC) in atypical ...
Shahrizaila Nortina - - 2013
OBJECTIVE: Recent studies have advocated the use of serial nerve conduction studies (NCS) in the electrodiagnosis of Guillain-Barré syndrome (GBS). The current study aims to elucidate when and how frequent NCS can be performed to reflect the disease pathophysiology. METHODS: A prospective study of GBS patients documenting the initial and ...
Martikainen Mika H - - 2013
Leigh syndrome is a mitochondrial disease with considerable clinical and genetic variation. We present a 16-year-old boy with Leigh-like syndrome and broad developmental retardation, parkinsonism and hypogonadism. Sequencing of the entire mitochondrial DNA from blood revealed the m.4296G>A mutation in the MT-TI gene. The mutation was heteroplasmic with a 95% ...
Loureiro Jesús - - 2013
Mesothelial-to-mesenchymal transition (MMT) is an autoregulated physiological process of tissue repair that in uncontrolled conditions, such as peritoneal dialysis (PD), can lead to peritoneal fibrosis. The maximum expression of sclerotic peritoneal syndromes (SPS) is the encapsulating peritoneal sclerosis (EPS) for which no specific treatment exists. The SPS includes a wide ...
Nishida Shingo - - 2013
Our patient had secondary restless legs syndrome (RLS) in the left lower limb caused by end-stage renal disease (ESRD). Severe RLS symptoms persisted even after amputation of the affected limb. Considering that oral administration of a dopamine receptor agonist was effective in treating the RLS in the phantom limb in ...
Kim Myeong-Kyu - - 2013
Recent genome-wide association studies (GWAS) for Caucasians identified several allelic variants associated with increased risk of developing restless legs syndrome (RLS), also known as Willis-Ekbom disease. Although the pathogenic mechanisms of RLS are not entirely understood, it is becoming increasingly evident that many diseases such as RLS can be attributed ...
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