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https://www.readbyqxmd.com/read/28092914/paraneoplastic-cerebellar-degeneration-associated-with-pelvic-liposarcoma-a-rare-case-report
#1
Liang Zhou, Xin Wei, Nian-Wei Wu, Han-Mei Zhang, Bang-Hua Liao, Shu-Lian Chen, Hong Li, Yu-Chun Zhu, Kun-Jie Wang
Paraneoplastic cerebellar degeneration (PCD) is one of the most common paraneoplastic neurological syndromes characterized by the rapid development of severe cerebellar ataxia. In this report, a 23-year-old female with noticeable dizziness and gait instability was described. The enhanced CT scanning suggested the presence of a pelvic tumor. Then, PCD was established. Postoperative pathological result defined it as a liposarcoma (LS) with dedifferentiation. Interestingly, clinical symptoms disappeared after the surgical removal of the pelvic tumor...
January 17, 2017: Urologia Internationalis
https://www.readbyqxmd.com/read/28089264/development-and-validation-of-the-deep-brain-stimulation-impairment-scale-dbs-is
#2
Franziska Maier, Catharine J Lewis, Carsten Eggers, Andrea A Kühn, Henriette Krug, Jens Volkmann, Anna D Kirsch, Lars Wojtecki, Alfons Schnitzler, Günther Deuschl, Joachim K Krauss, Christiane Woopen, Lars Timmermann
BACKGROUND: Bilateral deep brain stimulation of the subthalamic nucleus (STN-DBS) has considerable influence on motor and non-motor symptoms in Parkinson's disease (PD). While improvements in motor functioning can be easily assessed with general quality of life questionnaires, the measurement of specific STN-DBS-associated impairments often remains insufficient. Hence, we aimed to develop a questionnaire that measures STN-DBS-related impairments. METHODS: The development of the (STN-)DBS Impairment Scale (DBS-IS) consisted of four steps...
January 6, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28078311/common-variant-rs356182-near-snca-defines-a-parkinson-s-disease-endophenotype
#3
Christine A Cooper, Nimansha Jain, Michael D Gallagher, Daniel Weintraub, Sharon X Xie, Yosef Berlyand, Alberto J Espay, Joseph Quinn, Karen L Edwards, Thomas Montine, Vivianna M Van Deerlin, John Trojanowski, Cyrus P Zabetian, Alice S Chen-Plotkin
OBJECTIVE: Parkinson's disease (PD) presents clinically with several motor subtypes that exhibit variable treatment response and prognosis. Here, we investigated genetic variants for their potential association with PD motor phenotype and progression. METHODS: We screened 10 SNPs, previously associated with PD risk, for association with tremor-dominant (TD) versus postural-instability gait disorder (PIGD) motor subtypes. SNPs that correlated with the TD/PIGD ratio in a discovery cohort of 251 PD patients were then evaluated in a multi-site replication cohort of 559 PD patients...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28063387/effects-of-chronic-ankle-instability-on-kinetics-kinematics-and-muscle-activity-during-walking-and-running-a-systematic-review
#4
REVIEW
Gabriel Moisan, Martin Descarreaux, Vincent Cantin
The aim of this study is to systematically review and appraise studies assessing the effects of chronic ankle instability (CAI) on kinetics, kinematics and muscle activity during walking and running. The primary search was conducted in PubMed, Embase, CINAHL, AMED and SPORTDiscus. Only studies that compared participants with CAI with healthy participants and assessed kinetics, kinematics or muscle activity during walking or running were included. The risk of bias assessment was conducted using a modified version of the Quality Index checklist...
December 29, 2016: Gait & Posture
https://www.readbyqxmd.com/read/28056870/anti-n-methyl-d-aspartate-receptor-nmdar-antibody-encephalitis-presents-in-atypical-types-and-coexists-with-neuromyelitis-optica-spectrum-disorder-or-neurosyphilis
#5
Kaiyu Qin, Wenqing Wu, Yuming Huang, Dongmei Xu, Lei Zhang, Bowen Zheng, Meijuan Jiang, Cheng Kou, Junhua Gao, Wurong Li, Jinglin Zhang, Sumei Wang, Yanfei Luan, Chaoling Yan, Dan Xu, Xinmei Zheng
BACKGROUND: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a clinically heterogeneous disorder characterized by epileptic seizures, psychosis, dyskinesia, consciousness impairments, and autonomic instability. Symptoms are always various. Sometimes it presents in milder or incomplete forms. We report 4 cases of anti-NMDAR encephalitis with incomplete forms, 3 cases of which were accompanied by neuromyelitis optica spectrum disorder or neurosyphilis respectively. CASE PRESENTATION: A 33-year-old man presented with dysarthria, movement disorder and occasional seizures...
January 5, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28056109/postural-ataxia-in-cerebellar-downbeat-nystagmus-its-relation-to-visual-proprioceptive-and-vestibular-signals-and-cerebellar-atrophy
#6
Christoph Helmchen, Jan-Birger Kirchhoff, Martin Göttlich, Andreas Sprenger
BACKGROUND: The cerebellum integrates proprioceptive, vestibular and visual signals for postural control. Cerebellar patients with downbeat nystagmus (DBN) complain of unsteadiness of stance and gait as well as blurred vision and oscillopsia. OBJECTIVES: The aim of this study was to elucidate the differential role of visual input, gaze eccentricity, vestibular and proprioceptive input on the postural stability in a large cohort of cerebellar patients with DBN, in comparison to healthy age-matched control subjects...
2017: PloS One
https://www.readbyqxmd.com/read/28042406/a-novel-deletion-mutation-of-exon-2-of-the-c19orf12-gene-in-an-omani-family-with-mitochondrial-membrane-protein-associated-neurodegeneration-mpan
#7
Nabil Al Macki, Ismail Al Rashdi
Mutations in the C19orf12 gene are known to cause mitochondrial membrane protein-associated neurodegeneration (MPAN), which is a neurodegeneration with brain iron accumulation (NBIA) type 4 disorder. To the best of our knowledge, this is the first report of a genetically confirmed case of MPAN from Oman. A novel homozygous deletion of exon 2 of the C19orf12 gene was confirmed on the proband, a seven-year-old girl, who presented with gait instability. Brain magnetic resonance imaging showed iron deposition on the basal ganglia...
January 2017: Oman Medical Journal
https://www.readbyqxmd.com/read/28017232/stiff-person-syndrome-masquerading-as-multiple-sclerosis
#8
Joseph J Sabatino, Scott D Newsome
BACKGROUND: Stiff person syndrome (SPS) is a rare neuroimmunological disorder presenting with a wide variety of signs and symptoms that mimic neuro-inflammatory diseases, such as multiple sclerosis (MS), thus delaying diagnosis. METHODS: We performed a retrospective chart review of over 100 patients with SPS who were treated at Johns Hopkins Hospital and identified five patients previously diagnosed with MS. RESULTS: Patients were female with a mean age of 53years old (range 43-64)...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28012080/three-dimensional-micro-computed-tomography-analysis-for-spinal-instability-after-lumbar-facetectomy-in-the-rat
#9
Daisuke Fukui, Mamoru Kawakami, Kevin Cheng, Koichiro Murata, Keianne Yamada, Rinoka Sato, Munehito Yoshida, Hiroshi Yamada, Nozomu Inoue, Koichi Masuda
PURPOSE: Intervertebral disc degeneration is thought to contribute to low back pain. However, the pathophysiological mechanisms remain controversial. In a previous study, we developed an animal model that showed delayed gait disturbance after lumbar facetectomy in the rat. We believe that this gait disturbance was caused by low back pain, although the mechanisms of this gait abnormality remain unknown. The purpose of this study was to evaluate structural changes of the lumbar spine after facetectomy in the rat utilizing three-dimensional micro-computed tomography (3DμCT) compared to histology...
December 23, 2016: European Spine Journal
https://www.readbyqxmd.com/read/28000003/long-term-risk-of-falls-in-an-incident-parkinson-s-disease-cohort-the-norwegian-parkwest-study
#10
Ylva Hivand Hiorth, Guido Alves, Jan Petter Larsen, Jörn Schulz, Ole-Bjørn Tysnes, Kenn Freddy Pedersen
The objective of this study is to examine the frequency, development, concomitants, and risk factors of falls in a population-based incident Parkinson's disease (PD) cohort. One hundred eighty-one drug-naïve patients with incident PD and 173 normal controls recruited from the Norwegian ParkWest study were prospectively monitored over 7 years. Information on falls was obtained biannually from patients, and at baseline and after 1, 3, 5, and 7 years of follow-up in control subjects. Generalized estimating equation models for correlated data were applied to investigate concomitant features of falls and risk factors for incident falls during 7 years of follow-up in PD...
December 20, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27993708/subtypes-evaluation-of-motor-dysfunction-in-parkinson-s-disease-using-neuromelanin-sensitive-magnetic-resonance-imaging
#11
Yuanyuan Xiang, Tao Gong, Junwei Wu, Jifeng Li, Yan Chen, Yongxiang Wang, Shan Li, Lin Cong, Youting Lin, Yuxiang Han, Ling Yin, Guangbin Wang, Yifeng Du
Parkinson's disease (PD) is characterized by the loss of neuromelanin (NM)-containing neurons in the substantia nigra pars compacta (SNc), and it is divided into two motor subtypes: the postural instability gait difficulty (PIGD) and the tremor dominant (TD) subtypes. With NM-sensitive Magnetic Resonance Imaging (NM-MRI), investigators have been able to accurately detect signal attenuation in SNc of PD; however, the difference of NM loss between PIGD and TD subtypes is still unclear. Thus, the aim of this study was to evaluate the differences in NM-MRI between PD motor subtypes...
December 16, 2016: Neuroscience Letters
https://www.readbyqxmd.com/read/27988871/current-pharmacological-approaches-to-reduce-chorea-in-huntington-s-disease
#12
REVIEW
Emma M Coppen, Raymund A C Roos
There are currently no effective pharmacological agents available to stop or prevent the progression of Huntington's disease (HD), a rare hereditary neurodegenerative disorder. In addition to psychiatric symptoms and cognitive impairments, HD causes progressive motor disturbances, in particular choreiform movements, which are characterized by unwanted contractions of the facial muscles, trunk and extremities. Management of choreiform movements is usually advised if chorea interferes with daily functioning, causes social isolation, gait instability, falls, or physical injury...
December 17, 2016: Drugs
https://www.readbyqxmd.com/read/27977520/reliability-and-concurrent-validity-of-the-narrow-path-walking-test-in-persons-with-multiple-sclerosis
#13
Uri Rosenblum, Itshak Melzer
BACKGROUND AND PURPOSE: About 90% of people with multiple sclerosis (PwMS) have gait instability and 50% fall. Reliable and clinically feasible methods of gait instability assessment are needed. The study investigated the reliability and validity of the Narrow Path Walking Test (NPWT) under single-task (ST) and dual-task (DT) conditions for PwMS. METHODS: Thirty PwMS performed the NPWT on 2 different occasions, a week apart. Number of Steps, Trial Time, Trial Velocity, Step Length, Number of Step Errors, Number of Cognitive Task Errors, and Number of Balance Losses were measured...
January 2017: Journal of Neurologic Physical Therapy: JNPT
https://www.readbyqxmd.com/read/27932436/multifactorial-pathological-hip-subluxation-in-neurofibromatosis-type-1-nf1-due-to-intra-articular-plexiform-neurofibroma-lumbar-radiculopathy-and-neurofibromatous-polyneuropathy
#14
Waqar Waheed, Diego F Diego F Lemos, Nelms Nathaniel Nelms, Rup Tandan
Neurofibromatosis type-1 (NF1) is a multisystem disorder with very rare descriptions of hip instability. We report a case of a 37-year-old man with known NF1 and childhood-onset of left foot drop, who developed persistent left hip pain following a minor trauma. Physical examination revealed left-sided mild foot drop, hip abductor weakness, bilateral sensory loss in feet and an antalgic gait. Work-up revealed anterolateral subluxation of the left femoral head along with left hip plexiform neurofibroma (PN), dysplastic and degenerative changes, neurofibromatous neuropathy and chronic left L5 radiculopathy...
December 8, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27917383/hakim-adams-syndrome-an-unusual-cause-of-reversible-postoperative-coma
#15
Mohamed Saleh, Marine Bouex
We report the case of a 72-year-old patient presenting in our ICU with persistent postoperative coma in a context of recent unexplored neurological dysfunction. Detailed medical history taking from the patient's family revealed he recently suffered from gait instability, urinary incontinence, and slight cognitive impairment. These constituted the clinical triad of normal pressure hydrocephalus syndrome. The presence of normal cerebrospinal fluid (CSF) pressure and distinctive radiological findings confirmed the diagnosis of normal pressure hydrocephalus or Hakims-Adams syndrome...
2016: Frontiers in Medicine
https://www.readbyqxmd.com/read/27905365/-gait-disorders-and-postural-instability-in-patients-with-an-essential-tremor
#16
S V Vasichkin, O S Levin
AIM: To study gait disorders and postural instability in patients with essential tremor (ET). MATERIAL AND METHODS: Forty patients with ET, aged from 29 to 82 years, (mean 64.2±13.0) were examined. Tandem walk, tremor, stability and stabilometry were studied. RESULTS AND CONCLUSION: A half of the patients had gait disorders and postural instability. Though these disorders were mild to moderate, they caused significant subjective discomfort and influenced quality of life...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27905359/-clinical-and-neuropsychological-features-of-alzheimer-s-disease-in-the-combination-with-cerebrovascular-disease
#17
N A Trusova, O S Levin, A V Arablinsky
AIM: To study clinical/neuropsychological and neuroimaging characteristics of Alzheimer's disease in the combination with cerebrovascular disease (CVD). MATERIAL AND METHODS: Ninety patients with dementia, including 35 patients with AD, 35 patients with mixed dementia (MD) and 20 patients with vascular dementia, were examined. The character of dementia was established according to NINCDS-ADRDA and NINDS-AIREN criteria. The neuropsychological battery included Addenbrooke's Cognitive Examination (ACE-R), Montreal Cognitive Assessment scale (MoCA), fluency test and the visual memory test (SCT)...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27890756/cavernous-angioma-of-the-cerebral-aqueduct
#18
Alberto Feletti, Stavros Dimitriadis, Giacomo Pavesi
BACKGROUND: Among the rare intraventricular cavernomas, purely intra-aqueductal cavernomas are exceptionally rare. CASE DESCRIPTION: A 62-year-old patient presented with progressive headache, memory loss, gait instability, and urinary incontinence. Magnetic resonance imaging showed the presence of a mass lesion located in the lumen of the cerebral aqueduct, associated with triventricular hydrocephalus. CONCLUSIONS: We discuss the rationale that led us to treat hydrocephalus with neuroendoscopy, which offered the possibility to directly inspect the intra-aqueductal lesion, make the diagnosis of cavernoma, and treat symptoms resulting from hydrocephalus without increasing the risk of bleeding...
November 24, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27889925/deletion-of-the-vesicular-acetylcholine-transporter-from-pedunculopontine-laterodorsal-tegmental-neurons-modifies-gait
#19
Helena Janickova, Kaie Rosborough, Mohammed Al-Onaizi, Ornela Kljakic, Monica S Guzman, Robert Gros, Marco A M Prado, Vania F Prado
Postural instability and gait disturbances, common disabilities in the elderly and frequently present in Parkinson's disease (PD), have been suggested to be related to dysfunctional cholinergic signalling in the brainstem. We investigated how long-term loss of cholinergic signalling from mesopontine nuclei influence motor behaviours. We selectively eliminated the vesicular acetylcholine transporter (VAChT) in pedunculopontine and laterodorsal tegmental nuclei cholinergic neurons to generate mice with selective mesopontine cholinergic deficiency (VAChT(E)(n1-Cre-flox/flox) )...
November 27, 2016: Journal of Neurochemistry
https://www.readbyqxmd.com/read/27878585/motion-and-emotion-anxiety-axial-connections-in-parkinson-s-disease
#20
Rastislav Šumec, Irena Rektorová, Robert Jech, Kateřina Menšíková, Jan Roth, Evžen Růžička, Dana Sochorová, Ladislav Dušek, Petr Kaňovský, Ivan Rektor, Tomáš Pavlík, Pavel Filip, Martin Bareš
Anxiety is a serious and frequent complication in Parkinson's disease (PD) that significantly affects the quality of life of patients. Multiple neuroanatomical, experimental, and clinical studies suggest its close association with axial disturbances. However, whether this relation applies for PD patients (commonly suffering from axial difficulties, such as balance and gait disturbance) has not been properly tested yet. The purpose of this study was to determine whether PD patients suffering from axial symptoms have higher levels of anxiety than others and to identify other factors associated with anxiety-axial connections...
November 23, 2016: Journal of Neural Transmission
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