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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
#1
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
#2
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
#3
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
#4
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
#5
Alberto Feletti, Stavros Dimitriadis, Giacomo Pavesi
BACKGROUND: Among the rare intraventricular cavernomas (IVCs), purely intraaqueductal cavernomas are exceptional. CASE DESCRIPTION: We report a unique case of a 62-year-old patient who presented to our clinics complaining of progressive headache, memory loss, gait instability, and urinary incontinence. MR 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 intraaqueductal lesion, make the diagnosis of cavernoma, and treat symptoms due to 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
#6
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
#7
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
https://www.readbyqxmd.com/read/27878377/relationship-between-the-plasma-levels-of-neurodegenerative-proteins-and-motor-subtypes-of-parkinson-s-disease
#8
Jian Ding, Jiejin Zhang, Xixi Wang, Li Zhang, Siming Jiang, Yongsheng Yuan, Junyi Li, Lin Zhu, Kezhong Zhang
The aim of our study is to examine the plasma levels of the four kinds of neurodegenerative proteins in plasma: α-syn, T-tau, P-tau181, and Aβ-42 in Parkinson's disease (PD) and to evaluate the relationship between their plasma levels and PD motor subtypes. 84 patients with PD were enrolled in our study, and finally, 73 of them were classified into the tremor-dominant subtype (TD) and the postural instability gait difficulty subtype (PIGD). Their motor performance was evaluated by a series of clinical assessments: Freezing of Gait Questionnaire (FOGQ), Timed Up and Go (TUGs), Tinetti balance, and Tinetti gait...
November 22, 2016: Journal of Neural Transmission
https://www.readbyqxmd.com/read/27872585/the-pedunculopontine-tegmental-nucleus-as-a-motor-and-cognitive-interface-between-the-cerebellum-and-basal-ganglia
#9
REVIEW
Fumika Mori, Ken-Ichi Okada, Taishin Nomura, Yasushi Kobayashi
As an important component of ascending activating systems, brainstem cholinergic neurons in the pedunculopontine tegmental nucleus (PPTg) are involved in the regulation of motor control (locomotion, posture and gaze) and cognitive processes (attention, learning and memory). The PPTg is highly interconnected with several regions of the basal ganglia, and one of its key functions is to regulate and relay activity from the basal ganglia. Together, they have been implicated in the motor control system (such as voluntary movement initiation or inhibition), and modulate aspects of executive function (such as motivation)...
2016: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/27871435/resting-state-functional-connectivity-of-subthalamic-nucleus-in-different-parkinson-s-disease-phenotypes
#10
Zhan Wang, Huimin Chen, Huizi Ma, Lingyan Ma, Tao Wu, Tao Feng
Previous studies showed that the subthalamic nucleus (STN) plays a crucial role in Parkinson's disease (PD) pathophysiology. During rest, PD phenotypes exhibit different STN functional connectivity. STN functional connectivity was examined in 31 PD patients [12 tremor-dominant (TD) and 19 posture instability gait difficulty (PIGD)] and 22 healthy controls (HC). Compared with controls and PIGD patients, the TD patients exhibited higher functional connectivity between the bilateral STN and the left cerebellar anterior lobe...
December 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27866086/the-role-of-postural-instability-gait-difficulty-and-fear-of-falling-in-predicting-falls-in-non-demented-older-adults
#11
Gilles Allali, Emmeline I Ayers, Roee Holtzer, Joe Verghese
INTRODUCTION: Postural instability/gait difficulty (PIGD) and fear of falling (FoF) frequently co-exist, but their individual predictive values for falls have not been compared in aging. This study aims to determine both independent and combined effect of PIGD and FoF to falls in older adults without dementia. METHODS: PIGD and other extrapyramidal signs were systematically assessed in 449 community-dwelling participants without Parkinson's disease (76.48±6.61 ys; 56...
November 13, 2016: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/27862267/spinal-cord-stimulation-improves-gait-in-patients-with-parkinson-s-disease-previously-treated-with-deep-brain-stimulation
#12
Carolina Pinto de Souza, Clement Hamani, Carolina Oliveira Souza, William Omar Lopez Contreras, Maria Gabriela Dos Santos Ghilardi, Rubens Gisbert Cury, Egberto Reis Barbosa, Manoel Jacobsen Teixeira, Erich Talamoni Fonoff
BACKGROUND: Deep brain stimulation and levodopatherapy ameliorate motor manifestations in Parkinson's disease, but their effects on axial signs are not sustained in the long term. OBJECTIVES: The objective of this study was to investigate the safety and efficacy of spinal cord stimulation on gait disturbance in advanced Parkinson's disease. METHODS: A total of 4 Parkinson's disease patients who experienced significant postural instability and gait disturbance years after chronic subthalamic stimulation were treated with spinal cord stimulation at 300 Hz...
November 10, 2016: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/27861223/gastrointestinal-and-urologic-sphincter-dysfunction-in-stiff-person-syndrome
#13
Oana M Dumitrascu, Evgeny I Tsimerinov, Richard A Lewis
OBJECTIVES: Stiff person syndrome is a neurologic disorder characterized by axial rigidity leading to progressive disability, with broad clinical spectrum. METHODS: We report 2 cases with unique clinical presentation. RESULTS: Two young men suffered progressive urinary retention requiring bladder catheterization, anorectal spasms and constipation, complicated subsequently with lower extremity trigger-induced spasms, and gait instability. Associated symptoms revealed brainstem involvement (vertigo, diplopia, and cranial neuropathies) and dysautonomia (abnormal sweating and orthostatic hypotension)...
December 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27854207/long-term-oral-dantrolene-improved-muscular-symptoms-in-a-malignant-hyperthermia-susceptible-individual
#14
Brian N Butala, Audry Kang, Jasmeen Guron, Barbara W Brandom
This case report describes a female with p.Lys4876Arg amino acid change in the ryanodine receptor type 1 (RYR1) and a sibling who died of malignant hyperthermia (MH) during anesthesia. After her diagnosis as MH susceptible, this patient was administered low-dose dantrolene daily for greater than 25 years for treatment of chronic muscle spasm and pain in her lower extremities and back limiting sleep. Her creatine phosphokinase (CPK) was as high as 2390 IU/L during labor and 900 IU at rest. With 25 mg dantrolene daily, muscle cramps were eliminated, and sleep was improved...
March 3, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27854093/posterior-reversible-encephalopathy-syndrome-mimicking-brainstem-infarction-a-dilemma
#15
Tsung-Han Ho, Chia-Lin Tsai, Yaw-Don Hsu, Jiunn-Tay Lee, Fu-Chi Yang, Chia-Ching Hsu, Chun-Chieh Lin
PURPOSE: We had recently reported one case at American Journal of Emergency Medicine about centralvariant posterior reversible encephalopathy syndrome (PRES) in an 84-year-old woman with an initial misdiagnosis as central pontine myelinolysis (CPM). Here, we introduce another case of centralvariant PRES in a 49-year-old man mimicking as acute brainstem infarction in the cranial computed tomography (CT) findings. CASE REPORT: A 49-year-old man was admitted to the emergency department with a 5-day history of vertigo, cognitive decline, and difficulty in walking...
June 15, 2016: Acta Neurologica Taiwanica
https://www.readbyqxmd.com/read/27853414/stability-and-harmony-of-gait-in-patients-with-subacute-stroke
#16
Marco Iosa, Fabiano Bini, Franco Marinozzi, Augusto Fusco, Giovanni Morone, Giacomo Koch, Alex Martino Cinnera, Sonia Bonnì, Stefano Paolucci
Stroke affects many gait features, such as gait stability, symmetry, and harmony. However, it is still unclear which of these features are directly altered by primary damage, and which are affected by the reduced walking speed. The aim of this study was to analyze the above gait features in patients with subacute stroke with respect to the values observed in age- and speed-matched healthy subjects. A wearable triaxial accelerometer and an optoelectronic device were used for assessing the upright gait stability, symmetry of trunk movements, and harmonic structure of gait phases by means of the root-mean-square (RMS) acceleration of the trunk, harmonic ratio (HR), and gait ratios (GRs), respectively...
2016: Journal of Medical and Biological Engineering
https://www.readbyqxmd.com/read/27834534/vestibular-balance-microvascular-and-white-matter-neuroimaging-characteristics-of-blast-injuries-and-mild-traumatic-brain-injury-four-case-reports
#17
Ramtilak Gattu, Faith W Akin, Anthony T Cacace, Courtney D Hall, Owen D Murnane, E Mark Haacke
BACKGROUND: Case reports are presented on four Veterans, aged 29-46 years, who complained of chronic dizziness and/or postural instability following blast exposures. Two of the four individuals were diagnosed with mild traumatic brain injury and three of the four were exposed to multiple blasts. Comprehensive vestibular, balance, gait, audiometry and neuroimaging procedures were used to characterize their injuries. CASE REPORT: Vestibular assessment included videonystagmography, rotary chair and cervical and ocular vestibular evoked myogenic potentials...
2016: Brain Injury: [BI]
https://www.readbyqxmd.com/read/27817091/is-aceruloplasminemia-treatable-combining-iron-chelation-and-fresh-frozen-plasma-treatment
#18
L Poli, A Alberici, P Buzzi, E Marchina, A Lanari, C Arosio, A Ciccone, F Semeraro, R Gasparotti, A Padovani, Barbara Borroni
We report the case of a patient with hereditary ceruloplasmin deficiency due to a novel gene mutation in ceruloplasmin gene (CP), treated with fresh frozen plasma (FFP) and iron chelation therapy. A 59-year-old man with a past history of diabetes was admitted to our department due to progressive gait difficulties and cognitive impairment. Neurological examination revealed a moderate cognitive decline, with mild extrapyramidal symptoms, ataxia, and myoclonus. Brain T2-weighted MR imaging showed bilateral basal ganglia hypointensity with diffuse iron deposition...
November 5, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27816258/anti-yo-positive-paraneoplastic-cerebellar-degeneration-in-the-setting-of-cholangiocarcinoma
#19
Aubree Bruhnding, Derek Notch, Albertine Beard
Paraneoplastic neurological syndromes are a rare complication of malignancy. Subacute cerebellar ataxia, or paraneoplastic cerebellar degeneration, usually presents in women with a subcate onset of gait instability, followed by progressive limb and trunk ataxia, dysarthria, diplopia, and dysphagia that occurs in the setting of, or precedes the diagnosis of, a gynecologic or breast malignancy and clinically stabilizes within six months. The most common autoantibody associated with PCD is purkinje cell cytoplasmic antibody type 1, also known as anti-Yo...
November 2, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27816030/surgical-management-of-arrested-hydrocephalus-case-report-literature-review-and-18-month-follow-up
#20
Jennifer Hong, Benjamin G Barrena, S Scott Lollis, David F Bauer
OBJECTIVE: Arrested hydrocephalus is stable ventriculomegaly without evidence of neurologic deterioration or symptoms. Management of arrested hydrocephalus in asymptomatic adults is controversial, with little clinical data. This case highlights the potential for decompensation in adults with arrested hydrocephalus and reviews the literature regarding pathophysiology and management of this clinical entity. PATIENTS AND METHODS: A 39 year-old gentleman with arrested hydrocephalus incidentally found during work-up for new-onset seizure and managed conservatively for ten years presented with increasing headache, memory loss, gait instability and urinary and fecal incontinence...
December 2016: Clinical Neurology and Neurosurgery
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