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https://www.readbyqxmd.com/read/27842578/an-autopsy-confirmed-case-of-progressive-supranuclear-palsy-with-predominant-postural-instability
#1
Carolin Kurz, Georg Ebersbach, Gesine Respondek, Armin Giese, Thomas Arzberger, Günter Ulrich Höglinger
Postural instability and supranuclear gaze palsy represent the key symptoms of Richardson's syndrome, the most frequent clinical manifestation of progressive supranuclear palsy (PSP). However, a proportion of PSP patients never develops ocular motor symptoms, which prevents clinicians from establishing the diagnosis during lifetime according to current diagnostic criteria. We present one instructive autopsy-confirmed PSP case with prospective video-documented clinical course, showing striking temporal divergence of initially present postural instability and delayed development of ocular motor dysfunction...
November 14, 2016: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/27818813/familial-hemiplegic-migraine-with-severe-attacks-a-new-report-with-atp1a2-mutation
#2
E Martínez, R Moreno, L López-Mesonero, I Vidriales, M Ruiz, A L Guerrero, J J Tellería
Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attacks with motor weakness during the aura phase. Mutations in CACNA1A, ATP1A2, SCN1A, and PRRT2 genes have been described. Methods. To describe a mutation in ATP1A2 gene in a FHM case with especially severe and prolonged symptomatology. Results. 22-year-old woman was admitted due to migraine-type headache and sudden onset of right-sided weakness and aphasia; she had similar episodes in her childhood. Her mother was diagnosed with hemiplegic migraine without genetic confirmation...
2016: Case Reports in Neurological Medicine
https://www.readbyqxmd.com/read/27801772/cranial-nerve-vi-palsy-as-the-main-clinical-manifestation-of-neurosarcoidosis
#3
Zaid A Al-Qudah, Hussam A Yacoub, Nizar Souayah
INTRODUCTION: Sarcoidosis is a chronic, systemic, inflammatory disorder that is characterized by the formation of noncaseating granulomas. Patients may present with cranial nerve palsy, paresthesia, paresis, pyramidal signs, progressive cognitive decline, urinary retention, seizures, or hypothalamic-pituitary syndrome. Although the diagnosis of neurosarcoidosis can be challenging, neurological manifestations of sarcoidosis occur more frequently than previously described. CASE REPORT: A 23-year-old African American man presented to our emergency department with diplopia, which was worsened on left horizontal gaze...
November 2016: Neurologist
https://www.readbyqxmd.com/read/27778456/parinaud-syndrome-a-25-year-1991-2016-review-of-40-consecutive-adult-cases
#4
Melissa Shields, Swati Sinkar, WengOnn Chan, John Crompton
PURPOSE: To characterize the clinical features, aetiology and management of ophthalmic symptoms in adult patients with Parinaud syndrome. METHODS: This is a retrospective, non-comparative observational case series. We reviewed 40 consecutive charts of adult patients with the clinical diagnosis of Parinaud syndrome at the Royal Adelaide Hospital Department of Ophthalmology in Adelaide, South Australia, between 1991 and 2016. Charts were reviewed for the following: (1) demographic information, (2) clinical presentation, (3) neuro-ophthalmology signs, (4) aetiology of Parinaud syndrome, and (5) management...
October 24, 2016: Acta Ophthalmologica
https://www.readbyqxmd.com/read/27749773/horizontal-gaze-palsy-and-progressive-scoliosis-with-robo-3-mutations-in-patients-from-cape-verde
#5
Nadine B P S Mendes Marques, Sandra R Barros, Ana F Miranda, João Nobre Cardoso, Sónia Parreira, Teresa Fonseca, Nelvia M Donaire, Nuno Campos
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare and autosomal recessive syndrome. We describe 2 cases of HGPPS which are the first documented in patients of African ancestry from an isolated population in Cape Verde. They demonstrated typical findings on neuro-ophthalmic examination and brain magnetic resonance imaging. One patient had novel heterozymous mutations of the ROB0 3 gene.
October 3, 2016: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/27738402/a-pediatric-case-of-pituitary-macroadenoma-presenting-with-pituitary-apoplexy-and-cranial-nerve-involvement-case-report
#6
Mustafa Özçetin, Mehmet Karacı, Ertuğ Toroslu, Nurullah Edebali
Pituitary adenomas usually arise from the anterior lobe of the pituitary gland and are manifested with hormonal disorders or mass effect. Mass effect usually occurs in nonfunctional tumors. Pituitary adenomas may be manifested with visual field defects or rarely in the form of total oculomotor palsy. Visual field defect is most frequently in the form of bitemporal hemianopsia and superior temporal defect. Sudden loss of vision, papilledema and ophthalmoplegia may be observed. Pituitary apoplexy is defined as an acute clinical syndrome characterized with headache, vomiting, loss of vision, ophthalmoplegia and clouding of consciousness...
September 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/27720525/predictive-value-of-modifications-of-the-prehospital-rapid-arterial-occlusion-evaluation-scale-for-large-vessel-occlusion-in-patients-with-acute-stroke
#7
David Carrera, Bruce C V Campbell, Jordi Cortés, Montse Gorchs, Marisol Querol, Xavier Jiménez, Mònica Millán, Antoni Dávalos, Natalia Pérez de la Ossa
BACKGROUND: Prehospital clinical scales to identify patients with acute stroke with a large vessel occlusion (LVO) and direct them to an endovascular-capable stroke center are needed. We evaluated whether simplification of the Rapid Arterial oCclusion Evaluation (RACE) scale, a 5-item scale previously validated in the field, could maintain its high performance to identify patients with LVO. METHODS: Using the original prospective validation cohort of the RACE scale, 7 simpler versions of the RACE scale were designed and retrospectively recalculated for each patient...
October 6, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27682326/familial-horizontal-gaze-palsy-with-progressive-scoliosis
#8
Mohammad Rohani, Mostafa Almasi, Mostafa Soltan Sanjari
No abstract text is available yet for this article.
August 31, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/27651233/on-surgical-planning-and-innervation-in-pontine-gaze-palsy-with-ipsilateral-esotropia
#9
Deniz Somer, Fatma Gul Cinar, Ahmet Kaderli, Firdevs Ornek
PURPOSE: To discuss surgical intervention strategies and innervation among patients with horizontal gaze palsy with concurrent esotropia. METHODS: Five consecutive patients with dorsal pontine lesions are presented. Each patient had horizontal gaze palsy with symptomatic diplopia as a consequence of esotropia in attempted primary gaze and an anomalous head turn to attain single binocular vision. RESULTS: Clinical findings in the first 2 patients led us to presume there was complete loss of rectus muscle function from rectus muscle palsy...
September 17, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27647964/artery-of-percheron-infarction
#10
K V Vinod, R Kaaviya, Bhaumik Arpita
Artery of Percheron (AOP) occlusion is a rare cause of ischemic stroke characterized by bilateral paramedian thalamic infarcts, with or without mesencephalic infarction. Clinically it presents with mental state disturbances, hypersomnolence, aphasia/dysarthria, amnesia and ocular movement disorders, including vertical gaze palsy. Here, we report a case of cardioembolic AOP infarction in a 37-year-old woman with rheumatic mitral valvular stenosis. This case is being reported to highlight the interesting clinical and neuroimaging features of this rare condition, and the differential diagnosis of AOP infarction on imaging have been discussed...
July 2016: Annals of Neurosciences
https://www.readbyqxmd.com/read/27639495/-neuro-ophthalmic-emergencies
#11
A Caignard, S Leruez, D Milea
Neuro-ophthalmic emergencies can cause life-threatening or sight-threatening complications. Various conditions may have acute neuro-ophthalmic manifestations, including inflammatory or ischemic processes, as well as tumoral, aneurysmal compression or metabolic and systemic diseases. Diplopia related to a partial third nerve palsy with pupillary involvement may reveal an intracranial aneurysm. Abnormalities of conjugate gaze may reveal an inflammatory or ischemic lesion, most often of the brainstem. An intracranial tumor may also manifest itself as a single or multiple oculomotor palsy, or causing various visual field defects, due to optic nerve, chiasm or retrochiasmal involvement...
October 2016: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/27624121/the-clinical-spectrum-and-natural-history-of-pure-akinesia-with-gait-freezing
#12
Emily Owens, Keith A Josephs, Rodolfo Savica, Anhar Hassan, Bryan Klassen, James Bower, Demetrius Maraganore, Joseph Matsumoto, J E Ahlskog
Gait freezing as a presenting and relatively restricted condition is uncommon but a distinctive disorder. This entity was initially defined as "pure akinesia with gait freezing", and later a neuropathological substrate of progressive supranuclear palsy has been recognized. Limited studies have reported the clinical evolution after presentation, which is important for patient counseling. The objective of this study was to assess the demographic and clinical features, treatment-response, neuroimaging, and evolution of pure akinesia with gait freezing...
December 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27621387/teaching-video-neuroimages-bilateral-complete-horizontal-gaze-palsy-with-preserved-convergence-the-1-1-syndrome
#13
Damien Biotti, Caroline Tilikete
No abstract text is available yet for this article.
September 13, 2016: Neurology
https://www.readbyqxmd.com/read/27567293/pathways-linked-to-internuclear-ophthalmoplegia-on-diffusion-tensor-imaging-in-a-case-with-midbrain-infarction
#14
Haruka Takeshige, Yuji Ueno, Koji Kamagata, Fuyuko Sasaki, Kazuo Yamashiro, Ryota Tanaka, Shigeki Aoki, Nobutaka Hattori
BACKGROUND: Midbrain infarction shows diverse patterns of ophthalmoplegia; however, the association of ophthalmoplegia with a precise microanatomy has not been fully studied. Here, we report a patient with characteristic ophthalmoplegia and explore the associated pathologic fiber tracts using diffusion-tensor imaging (DTI). METHODS: A 21-year-old woman with an 11-year history of mixed connective tissue disease (MCTD) abruptly developed bilateral internuclear ophthalmoplegia (INO) with upward gaze and convergence palsies...
August 24, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27558376/acute-intermittent-porphyria-related-leukoencephalopathy
#15
Sietske H Kevelam, Rochus A Neeleman, Quinten Waisfisz, Edith C H Friesema, Janneke G Langendonk, Marjo S van der Knaap
OBJECTIVE: To identify the genetic etiology of a distinct leukoencephalopathy with autosomal recessive inheritance in a single family. METHODS: We analyzed available MRIs and retrospectively reviewed clinical information and laboratory investigations. We performed whole-exome sequencing to find the causal gene variants. RESULTS: We identified 3 family members with a similar MRI pattern characterized by symmetrical signal abnormalities in the periventricular and deep cerebral white matter, thalami, and central part of the pons...
September 20, 2016: Neurology
https://www.readbyqxmd.com/read/27558375/mr-parkinsonism-index-predicts-vertical-supranuclear-gaze-palsy-in-patients-with-psp-parkinsonism
#16
Aldo Quattrone, Maurizio Morelli, David R Williams, Basilio Vescio, Gennarina Arabia, Salvatore Nigro, Giuseppe Nicoletti, Maria Salsone, Fabiana Novellino, Rita Nisticò, Franco Pucci, Carmelina Chiriaco, Pierfrancesco Pugliese, Domenico Bosco, Manuela Caracciolo
OBJECTIVE: To identify a biomarker for predicting the appearance of vertical supranuclear gaze palsy (VSGP) in patients affected by progressive supranuclear palsy-parkinsonism (PSP-P). METHODS: Twenty-four patients with PSP-P were enrolled in the current study. Patients were clinically followed up every 6 months until the appearance of VSGP or the end of the follow-up (4 years). Participants underwent MRI at baseline and at the end of follow-up. Magnetic resonance parkinsonism index (MRPI), an imaging measure useful for diagnosing PSP, was calculated...
September 20, 2016: Neurology
https://www.readbyqxmd.com/read/27553583/visual-signs-and-symptoms-of-corticobasal-degeneration
#17
REVIEW
Richard A Armstrong
Corticobasal degeneration is a rare, progressive neurodegenerative disease and a member of the 'parkinsonian' group of disorders, which also includes Parkinson's disease, progressive supranuclear palsy, dementia with Lewy bodies and multiple system atrophy. The most common initial symptom is limb clumsiness, usually affecting one side of the body, with or without accompanying rigidity or tremor. Subsequently, the disease affects gait and there is a slow progression to influence ipsilateral arms and legs. Apraxia and dementia are the most common cortical signs...
November 2016: Clinical & Experimental Optometry: Journal of the Australian Optometrical Association
https://www.readbyqxmd.com/read/27545679/absence-of-the-autophagy-adaptor-sqstm1-p62-causes-childhood-onset-neurodegeneration-with-ataxia-dystonia-and-gaze-palsy
#18
Tobias B Haack, Erika Ignatius, Javier Calvo-Garrido, Arcangela Iuso, Pirjo Isohanni, Camilla Maffezzini, Tuula Lönnqvist, Anu Suomalainen, Matteo Gorza, Laura S Kremer, Elisabeth Graf, Monika Hartig, Riccardo Berutti, Martin Paucar, Per Svenningsson, Henrik Stranneheim, Göran Brandberg, Anna Wedell, Manju A Kurian, Susan A Hayflick, Paola Venco, Valeria Tiranti, Tim M Strom, Martin Dichgans, Rita Horvath, Elke Holinski-Feder, Christoph Freyer, Thomas Meitinger, Holger Prokisch, Jan Senderek, Anna Wredenberg, Christopher J Carroll, Thomas Klopstock
SQSTM1 (sequestosome 1; also known as p62) encodes a multidomain scaffolding protein involved in various key cellular processes, including the removal of damaged mitochondria by its function as a selective autophagy receptor. Heterozygous variants in SQSTM1 have been associated with Paget disease of the bone and might contribute to neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Using exome sequencing, we identified three different biallelic loss-of-function variants in SQSTM1 in nine affected individuals from four families with a childhood- or adolescence-onset neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline...
September 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27537982/gaze-based-assistive-technology-used-in-daily-life-by-children-with-severe-physical-impairments-parents-experiences
#19
Maria Borgestig, Patrik Rytterström, Helena Hemmingsson
OBJECTIVE: To describe and explore parents' experiences when their children with severe physical impairments receive gaze-based assistive technology (gaze-based assistive technology (AT)) for use in daily life. METHODS: Semi-structured interviews were conducted twice, with one year in between, with parents of eight children with cerebral palsy that used gaze-based AT in their daily activities. To understand the parents' experiences, hermeneutical interpretations were used during data analysis...
August 18, 2016: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/27532657/effectiveness-of-allied-health-therapy-in-the-symptomatic-management-of-progressive-supranuclear-palsy-a-systematic-review
#20
Erica Tilley, James McLoughlin, Simon A Koblar, Sebastian H Doeltgen, Cindy Stern, Sarahlouise White, Micah D J Peters
BACKGROUND: Progressive supranuclear palsy (PSP) is an adult onset neurodegenerative condition associated with mobility, balance, speech, swallowing, vision and cognitive changes. The condition is diagnosed using the National Institute for Neurological Disorders and Stroke (NINDS) and the Society of Progressive Supranuclear Palsy (SPSP) criteria. Therapeutic interventions for PSP are important, and a healthcare team should include a physiotherapist, occupational therapist and speech therapist...
June 2016: JBI Database of Systematic Reviews and Implementation Reports
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