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Vertical gaze palsy

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https://read.qxmd.com/read/30759325/refining-initial-diagnosis-of-parkinson-s-disease-after-follow-up-a-4-year-prospective-clinical-and-magnetic-resonance-imaging-study
#1
Aldo Quattrone, Maurizio Morelli, Basilio Vescio, Salvatore Nigro, Emilio Le Piane, Umberto Sabatini, Manuela Caracciolo, Virginia Vescio, Andrea Quattrone, Gaetano Barbagallo, Carlo Stanà, Giuseppe Nicoletti, Gennarina Arabia, Rita Nisticò, Fabiana Novellino, Maria Salsone
BACKGROUND: No prospective study of patients with Parkinson's disease (PD) has investigated the appearance of vertical gaze abnormalities, a feature suggestive of progressive supranuclear palsy (PSP). OBJECTIVE: To identify, within a cohort of patients with an initial diagnosis of PD, those who developed vertical gaze abnormalities during a 4-year follow-up, and to investigate the performance of new imaging biomarkers in predicting vertical gaze abnormalities. METHODS: A total of 110 patients initially classified as PD and 74 controls were enrolled...
February 13, 2019: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/30737051/a-case-of-niemann-pick-disease-type-c-with-neonatal-liver-failure-initially-diagnosed-as-neonatal-hemochromatosis
#2
Tadayuki Kumagai, Hiroshi Terashima, Hajime Uchida, Akinari Fukuda, Mureo Kasahara, Motomichi Kosuga, Torayuki Okuyama, Tomoyuki Tsunoda, Ayano Inui, Tomoo Fujisawa, Aya Narita, Yoshikatsu Eto, Masaya Kubota
BACKGROUND: Niemann-Pick type C (NPC) is a lysosomal lipid storage disease with mutation of NPC1/NPC2 genes, which transport lipids in the endosome and lysosome, and various neurological symptoms. NPC patients also develop hepatosplenomegaly or liver disorder in the neonatal period, and 10% suffer severe liver failure. Neonatal hemochromatosis (NH) is a liver disorder characterized by hepatic and extrahepatic siderosis. Although the etiology of NH is unclear, recent reports suggest that the gestational alloimmune mechanism is the cause of NH...
February 5, 2019: Brain & Development
https://read.qxmd.com/read/30732429/abnormal-eye-movements-in-parkinsonism-and-movement-disorders
#3
Ileok Jung, Ji-Soo Kim
Abnormal eye movements are commonly observed in movement disorders. Ocular motility examination should include bedside evaluation and laboratory recording of ocular misalignment, involuntary eye movements, including nystagmus and saccadic intrusions/oscillations, triggered nystagmus, saccades, smooth pursuit (SP), and the vestibulo-ocular reflex. Patients with Parkinson's disease (PD) mostly show hypometric saccades, especially for the selfpaced saccades, and impaired SP. Early vertical saccadic palsy is characteristic of progressive supranuclear palsy-Richardson's syndrome...
January 2019: Journal of Movement Disorders
https://read.qxmd.com/read/30680221/slow-saccades-in-cerebellar-disease
#4
REVIEW
Kelsey Jensen, Sinem Balta Beylergil, Aasef G Shaikh
Eye movements are frequently considered diagnostic markers indicating involvement of the cerebellum. Impaired amplitude of saccades (saccade dysmetria), impaired gaze holding function (horizontal or downbeat nystagmus), and interrupted (choppy) pursuit are typically considered hallmarks of cerebellar disorders. While saccade dysmetria is a frequently considered abnormality, the velocity of saccades are rarely considered part of the constellation of cerebellar involvement. Reduced saccade velocity, frequently called "slow saccades" are typically seen in a classic disorder of the midbrain called progressive supranuclear palsy...
2019: Cerebellum & Ataxias
https://read.qxmd.com/read/30641671/-a-study-of-superior-oblique-muscle-changes-in-superior-oblique-palsy-using-magnetic-resonance-imaging
#5
R Hao, W Zhang, K X Zhao
Objective: To observe the magnetic resonance imaging(MRI) changes of superior oblique muscle and to study the relationship between changes and clinical signs in superior oblique muscle palsy. Methods: Cross-sectional study. Data was collected from January 2014 to January 2016 in Tianjin Eye Hospital. Twenty-three(30 eyes) patients who were diagnosed with superior oblique palsy included 15 patients with congenital superior oblique palsy [9 males and 6 females aged (32±13) years (range, 12-53 years)] and 8 cases with acquired superior oblique palsy [3 males and 5 females aged (36±15) years(range, 17-62 years)]...
January 11, 2019: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://read.qxmd.com/read/30632019/psychiatric-and-cognitive-symptoms-associated-with-niemann-pick-type-c-disease-neurobiology-and-management
#6
REVIEW
Thomas Rego, Sarah Farrand, Anita M Y Goh, Dhamidhu Eratne, Wendy Kelso, Simone Mangelsdorf, Dennis Velakoulis, Mark Walterfang
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder that presents with a spectrum of clinical manifestations from infancy and childhood or in early or mid-adulthood. Progressive neurological symptoms including ataxia, dystonia and vertical gaze palsy are a hallmark of the disease, and psychiatric symptoms such as psychosis and mood disorders are common. These latter symptoms often present early in the course of NPC and thus these patients are often diagnosed with a major psychotic or affective disorder before neurological and cognitive signs present and the diagnosis is revised...
January 10, 2019: CNS Drugs
https://read.qxmd.com/read/30580990/causes-and-surgical-treatment-of-diplopia-and-strabismus-secondary-to-myasthenia-gravis
#7
P Merino Sanz, I Del Cerro Pérez, G Alan Peinado, P Gómez de Liaño Sánchez
OBJECTIVE: To present a report of the ocular motility disorders, treatment and outcomes of myasthenia gravis (MG). MATERIAL AND METHOD: A retrospective study was performed on the data of patients with MG. An evaluation was made using mean age, gender, initial diagnosis, ocular deviation, time of onset of clinical characteristics, treatment and results. Resolution of diplopia and/or ocular deviation in primary and reading gaze was considered a good outcome at the end of follow-up...
December 20, 2018: Archivos de la Sociedad Española de Oftalmología
https://read.qxmd.com/read/30568845/artery-of-percheron-infarction-results-in-severe-bradycardia-a-case-report
#8
Chompunut Asavaaree, Cara Doyle, Saksith Smithason
Background: The thalamus is normally supplied by each posterior cerebral artery (PCA). The artery of percheron is a variant of this anatomy as it arises as a single trunk unilaterally from the PCA to supply the thalamus bilaterally. Occlusion of this artery is rare, and the diagnosis is usually missed without obtaining an MRI. Case Description: We illustrate the case of a 68-year-old male who presented with coma, ocular gaze palsy, and severe bradycardia from bilateral thalamic nuclei and midbrain infarction, as described as an artery of Percheron infarction...
2018: Surgical Neurology International
https://read.qxmd.com/read/30333923/rare-valiant-vertical-one-and-a-half-syndrome-without-ipsilateral-upward-gaze-palsy-in-a-patient-with-thalamomesencephalic-stroke
#9
Kota Sato, Yoshiaki Takahashi, Namiko Matsumoto, Taijun Yunoki, Mami Takemoto, Nozomi Hishikawa, Yasuyuki Ohta, Toru Yamashita, Koji Abe
Bilateral upward and ipsilateral downward gaze palsy due to a unilateral thalamomesencephalic stroke is called vertical one-and-a-half syndrome (VOHS). Here, we report a valiant VOHS case who presented contralateral upward and ipsilateral downward gaze palsy due to a unilateral thalamomesencephalic stroke. The neuronal fiber connections associated with vertical gaze are not completely understood, so the present case provides an important proof to obtain a better understanding of vertical gaze mechanisms.
September 2018: Neurology and Clinical Neuroscience
https://read.qxmd.com/read/30285904/adult-niemann-pick-disease-type-c-in-france-clinical-phenotypes-and-long-term-miglustat-treatment-effect
#10
Yann Nadjar, Ana Lucia Hütter-Moncada, Philippe Latour, Xavier Ayrignac, Elsa Kaphan, Christine Tranchant, Pascal Cintas, Adrian Degardin, Cyril Goizet, Chloe Laurencin, Lionel Martzolff, Caroline Tilikete, Mathieu Anheim, Bertrand Audoin, Vincent Deramecourt, Thierry Dubard De Gaillarbois, Emmanuel Roze, Foudil Lamari, Marie T Vanier, Bénédicte Héron
BACKGROUND: Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal lipid storage disease caused by autosomal recessive mutations in the NPC1 or NPC2 genes. The clinical presentation and evolution of NP-C and the effect of miglustat treatment are described in the largest cohort of patients with adolescent/adult-onset NP-C studied to date. METHODS: Observational study based on clinical chart data from adult patients with NP-C (> 18 year old) diagnosed in France between 1990 and 2015...
October 1, 2018: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/30258479/vertical-gaze-palsy-caused-by-selective-unilateral-rostral-midbrain-infarction
#11
Misato Yokose, Kohei Furuya, Masayuki Suzuki, Tadashi Ozawa, Younhee Kim, Kumiko Miura, Kosuke Matsuzono, Takafumi Mashiko, Mari Tada, Reiji Koide, Haruo Shimazaki, Tohru Matsuura, Shigeru Fujimoto
Vertical gaze palsy is rarely a neurological symptom, although it has been observed in some cases. Here, we report the case of a patient presenting with complete upward and downward gaze palsy. In this case, a small lesion in the left rostral midbrain was observed on diffusion-weighted magnetic resonance (MR) images, and the lesion was considered to cause the ocular symptom. We consider that vertical gaze palsy is an important clue to an accurate topical diagnosis of a brain lesion.
October 2018: Neuro-ophthalmology
https://read.qxmd.com/read/30214424/reversible-valproate-induced-subacute-encephalopathy-associated-with-a-mt-atp8-variant-in-the-mitochondrial-genome
#12
Giovanna De Michele, Pierpaolo Sorrentino, Claudia Nesti, Anna Rubegni, Lucia Ruggiero, Silvio Peluso, Antonella Antenora, Mario Quarantelli, Alessandro Filla, Giuseppe De Michele, Filippo M Santorelli
Introduction: There are several reported cases of patients developing motor and cognitive neurological impairment under treatment with valproic acid (VPA). We describe a woman who developed a subacute encephalopathy after VPA intake, harboring a mitochondrial DNA variant, previously described as causing VPA sensitivity in one pediatric patient. Material and Methods: A 65-year old woman developed a progressive, severe neurological deterioration after a 3 month treatment with valproate sodium, 800 mg daily. Magnetic resonance spectroscopy (MRS), muscle histochemical analysis and assay of mitochondrial enzymatic activities, and mitochondrial DNA sequencing were performed...
2018: Frontiers in Neurology
https://read.qxmd.com/read/30196787/orbital-imaging-in-strabismus
#13
Robert A Clark
Normal orbital anatomy plays a foundational role in stabilizing binocular eye movements. Abnormal orbital anatomy, contrariwise, destabilizes binocular eye alignment by introducing eccentric and unbalanced EOM forces. These abnormalities can be categorized into five broad etiologies: (1) orbital structural disorders; (2) globe size disorders; (3) degenerative disorders; (4) innervational disorders; and (5) trauma. Orbital imaging provides important diagnostic information on EOM path and innervational status, but only if performed properly...
July 2018: Journal of binocular vision and ocular motility
https://read.qxmd.com/read/30187371/screening-for-niemann-pick-type-c-disease-in-a-memory-clinic-cohort
#14
Andreas Traschütz, Michael Thomas Heneka
Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disorder with a heterogeneous phenotype including ataxia, cognitive impairment, impairment of vertical saccades, and psychiatric symptoms, among many others. Based on clinical, genetic, and biomarker findings, recent guidelines put forward a screening for atypical and oligosymptomatic forms of NPC in clinical niches with an increased risk. Here, we report methods and results of a negative screening study in the niche of a memory clinic. We retrospectively and prospectively identified 83 patients with unclassified cognitive impairment (15 dementia, 46 mild cognitive impairment, and 22 progressive subjective cognitive decline) before 60 years of age (82 patients between 41 and 60 years)...
September 6, 2018: JIMD Reports
https://read.qxmd.com/read/30131406/progressive-supranuclear-palsy-responding-to-intravenous-thiamine-superimposed-wernicke-s-encephalopathy
#15
Sanjay Prakash, Hemant Joshi, Jay Patel
Progressive supranuclear palsy (PSP) may be a risk factor for thiamine deficiency. The classic symptoms of PSP (postural instability, supranuclear vertical gaze palsy and dementia) overlap with the clinical triad of Wernicke's encephalopathy (cognitive impairment, gait problems and ocular abnormality). Therefore, superimposed thiamine deficiency in patients with PSP may aggravate the pre-existing symptoms of PSP. Here, we are reporting a 64-year-old woman having supranuclear ocular palsy, gait instability and dementia for the past 2-3 years...
August 20, 2018: BMJ Case Reports
https://read.qxmd.com/read/30119649/phenotypic-variability-of-niemann-pick-disease-type-c-including-a-case-with-clinically-pure-schizophrenia-a-case-report
#16
Tomoya Kawazoe, Toshiyuki Yamamoto, Aya Narita, Kousaku Ohno, Kaori Adachi, Eiji Nanba, Atsuko Noguchi, Tsutomu Takahashi, Masamitsu Maekawa, Yoshikatsu Eto, Masafumi Ogawa, Miho Murata, Yuji Takahashi
BACKGROUND: Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because of remarkably variable clinical presentations. The NPC Suspicion Index (NPC-SI) was developed to overcome this problem. Identifying preclinical cases is important for prevention and therapy. Here, we report three newly diagnosed NPC cases, one typical juvenile-onset case and the cases of two sisters with symptoms neurologically/psychiatrically indistinguishable from dystonia and schizophrenia, respectively...
August 17, 2018: BMC Neurology
https://read.qxmd.com/read/30086614/clinical-and-imaging-features-of-multiple-system-atrophy-challenges-for-an-early-and-clinically-definitive-diagnosis
#17
Hirohisa Watanabe, Yuichi Riku, Kazuhiro Hara, Kazuya Kawabata, Tomohiko Nakamura, Mizuki Ito, Masaaki Hirayama, Mari Yoshida, Masahisa Katsuno, Gen Sobue
Multiple system atrophy (MSA) is an adult-onset, progressive neurodegenerative disorder. Patients with MSA show various phenotypes during the course of their illness, including parkinsonism, cerebellar ataxia, autonomic failure, and pyramidal signs. Patients with MSA sometimes present with isolated autonomic failure or motor symptoms/ signs. The median duration from onset to the concomitant appearance of motor and autonomic symptoms is approximately 2 years but can range up to 14 years. As the presence of both motor and autonomic symptoms is essential for the current diagnostic criteria, early diagnosis is difficult when patients present with isolated autonomic failure or motor symptoms/signs...
September 2018: Journal of Movement Disorders
https://read.qxmd.com/read/30050731/bilateral-thalamic-ischemic-stroke-secondary-to-occlusion-of-the-artery-of-percheron
#18
Miguel A Garcia-Grimshaw, Mariana Peschard-Franco, Francisco A Gutierrez-Manjarrez
The occlusion of the artery of Percheron (AOP) is a rare condition that causes bilateral thalamic ischemic stroke with or without midbrain involvement. It happens as a result of an anatomical variant of the diencephalic irrigation, in which the thalamic paramedian arteries arise from a common trunk from the posterior cerebral artery (PCA), which generates a clinical syndrome characterized by bilateral vertical gaze palsy, memory impairment and hypersomnia. In this case, we report a 62-year-old woman admitted to the emergency room with altered mental status, mainly somnolence...
May 23, 2018: Curēus
https://read.qxmd.com/read/30038456/vestibular-and-oculomotor-function-in-children-with-cerebral-palsy-a-scoping-review
#19
REVIEW
Anwar Almutairi, Jennifer Braswell Christy, Laura Vogtle
Cerebral palsy (CP) is a nonprogressive permanent brain injury that causes an impairment of movement and posture. This scoping review aimed to answer the following questions: (1) "What is the status of oculomotor function in children with CP?" (2) "What is the status of vestibular function (i.e., gaze stability, perception of vertical, vestibular-related balance abilities) in children with CP?" Using Arksey's and O'Malley's five-stage framework, we searched six online databases for relevant articles...
August 2018: Seminars in Hearing
https://read.qxmd.com/read/29902389/the-diagnosis-of-progressive-supranuclear-palsy-current-opinions-and-challenges
#20
Farwa Ali, Keith Josephs
Progressive supranuclear palsy (PSP) is associated with microtubule-associated protein tau dysfunction. Originally thought to result in a syndrome of atypical Parkinsonism, vertical supranuclear gaze palsy, and cognitive impairment, several additional phenotypic manifestations of PSP pathology have been described over the last 20 years. Furthermore, prototypical PSP features may develop late, making early diagnosis challenging. Areas covered: An in-depth view of emerging knowledge in the field of PSP. Advances in clinicopathologic correlation, blood, cerebrospinal, and more importantly neuroimaging biomarkers are discussed in light of the 2017 PSP diagnostic criteria by the Movement Disorders Society Study Group...
July 2018: Expert Review of Neurotherapeutics
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