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Vertical gaze palsy

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https://www.readbyqxmd.com/read/30333923/rare-valiant-vertical-one-and-a-half-syndrome-without-ipsilateral-upward-gaze-palsy-in-a-patient-with-thalamomesencephalic-stroke
#1
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://www.readbyqxmd.com/read/30285904/adult-niemann-pick-disease-type-c-in-france-clinical-phenotypes-and-long-term-miglustat-treatment-effect
#2
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://www.readbyqxmd.com/read/30258479/vertical-gaze-palsy-caused-by-selective-unilateral-rostral-midbrain-infarction
#3
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://www.readbyqxmd.com/read/30214424/reversible-valproate-induced-subacute-encephalopathy-associated-with-a-mt-atp8-variant-in-the-mitochondrial-genome
#4
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://www.readbyqxmd.com/read/30196787/orbital-imaging-in-strabismus
#5
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://www.readbyqxmd.com/read/30187371/screening-for-niemann-pick-type-c-disease-in-a-memory-clinic-cohort
#6
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://www.readbyqxmd.com/read/30131406/progressive-supranuclear-palsy-responding-to-intravenous-thiamine-superimposed-wernicke-s-encephalopathy
#7
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://www.readbyqxmd.com/read/30119649/phenotypic-variability-of-niemann-pick-disease-type-c-including-a-case-with-clinically-pure-schizophrenia-a-case-report
#8
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://www.readbyqxmd.com/read/30086614/clinical-and-imaging-features-of-multiple-system-atrophy-challenges-for-an-early-and-clinically-definitive-diagnosis
#9
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://www.readbyqxmd.com/read/30050731/bilateral-thalamic-ischemic-stroke-secondary-to-occlusion-of-the-artery-of-percheron
#10
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://www.readbyqxmd.com/read/30038456/vestibular-and-oculomotor-function-in-children-with-cerebral-palsy-a-scoping-review
#11
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://www.readbyqxmd.com/read/29902389/the-diagnosis-of-progressive-supranuclear-palsy-current-opinions-and-challenges
#12
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
https://www.readbyqxmd.com/read/29843650/horizontal-gaze-palsy-with-progressive-scoliosis-a-case-report-with-magnetic-resonance-tractography-and-electrophysiological-study
#13
Chi-Wei Lin, Chung-Ping Lo, Min-Chien Tu
BACKGROUND: Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare autosomal recessive congenital anomaly characterized by horizontal gaze limitation and progressive scoliosis. We investigated the underlying pathogenesis by incorporating diffusion tensor imaging and an electrophysiological study. CASE PRESENTATION: A 55-year-old female patient presented to our clinic due to a chronic history of eye movement limitation since childhood. Her eye problem was followed by a progressive scoliotic change in her torso during junior high school...
May 29, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29801913/progressive-spasticity-supranuclear-gaze-palsy-and-postural-instability-without-parkinsonism-what-s-in-a-phenotype
#14
L Ricciardi, M J Edwards, A Fasano, K P Bhatia, M Stamelou
We present a series of patients with vertical supranuclear gaze palsy, postural instability with falls, and progressive spasticity, who mimic Progressive Supranuclear Palsy - Richardson's syndrome (PSP-R) but have no parkinsonism, and in whom dopamine transporter imaging is normal. We suggest possible aetiologies for this constellation of symptoms, discuss the possible origin of these signs and highlight this phenotype as it may mimic atypical parkinsonism and in particular PSP.
July 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29505103/interventions-for-eye-movement-disorders-due-to-acquired-brain-injury
#15
REVIEW
Fiona J Rowe, Kerry Hanna, Jennifer R Evans, Carmel P Noonan, Marta Garcia-Finana, Caroline S Dodridge, Claire Howard, Kathryn A Jarvis, Sonia L MacDiarmid, Tallat Maan, Lorraine North, Helen Rodgers
BACKGROUND: Acquired brain injury can cause eye movement disorders which may include: strabismus, gaze deficits and nystagmus, causing visual symptoms of double, blurred or 'juddery' vision and reading difficulties. A wide range of interventions exist that have potential to alleviate or ameliorate these symptoms. There is a need to evaluate the effectiveness of these interventions and the timing of their implementation. OBJECTIVES: We aimed to assess the effectiveness of any intervention and determine the effect of timing of intervention in the treatment of strabismus, gaze deficits and nystagmus due to acquired brain injury...
March 5, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29467180/ocular-neuromyotonia
#16
Ricardo Soares-Dos-Reis, Ana Inês Martins, Ana Brás, Anabela Matos, Conceição Bento, João Lemos
Ocular neuromyotonia is a rare, albeit treatable, ocular motor disorder, characterised by recurrent brief episodes of diplopia due to tonic extraocular muscle contraction. Ephaptic transmission in a chronically damaged ocular motor nerve is the possible underlying mechanism. It usually improves with carbamazepine. A 53-year-old woman presented with a 4-month history of recurrent episodes of binocular vertical diplopia (up to 40/day), either spontaneously or after sustained downward gaze. Between episodes she had a mild left fourth nerve palsy...
October 2018: Practical Neurology
https://www.readbyqxmd.com/read/29455271/progressive-supranuclear-palsy-an-update
#17
REVIEW
Melissa J Armstrong
PURPOSE OF REVIEW: Progressive supranuclear palsy (PSP) is a 4R tau neuropathologic entity. While historically defined by the presence of a vertical supranuclear gaze palsy and falls in the first symptomatic year, clinicopathologic studies identify alternate presenting phenotypes. This article reviews the new PSP diagnostic criteria, diagnostic approaches, and treatment strategies. RECENT FINDINGS: The 2017 International Parkinson and Movement Disorder Society PSP criteria outline 14 core clinical features and 4 clinical clues that combine to diagnose one of eight PSP phenotypes with probable, possible, or suggestive certainty...
February 17, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29397615/-clinical-features-and-gene-mutation-analysis-of-patients-with-niemann-pick-disease-type-c
#18
S C Ren, Z X Tian, Y X Deng, Y J Wang, X J Wu, Y Z Zhang, B Q Gao
Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively which included clinical manifestations, laboratory results and NPC1 gene mutation features, and a series of follow-up were carried out about therapeutic efficacy and prognosis...
January 23, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29386618/botulinum-toxin-as-an-initial-therapy-for-management-of-sixth-nerve-palsies-caused-by-nasopharyngeal-carcinomas
#19
E S Wong, C P S Lam, F H S Lau, W W Y Lau, J C S Yam
PurposeThe purpose of this study is to evaluate the efficacy and safety of botulinum toxin injection as a primary treatment for strabismus in a cohort of patients with nasopharyngeal carcinoma (NPC)-related chronic sixth nerve palsy.Patients and methodsWe retrospectively reviewed all cases of NPC-related sixth nerve palsy receiving botulinum toxin injection in the Hong Kong Eye Hospital between January 2009 and January 2016. Only cases with diplopia for at least 6 months; and failed a trial of Fresnel prism therapy were recruited...
April 2018: Eye
https://www.readbyqxmd.com/read/29299740/augmented-superior-rectus-transposition-procedure-in-duane-retraction-syndrome-compared-with-sixth-nerve-palsy
#20
COMPARATIVE STUDY
Mohammadreza Akbari, Setareh Shomali, Arash Mirmohammadsadeghi, Masoud Aghsaei Fard
PURPOSE: Superior rectus transposition (SRT) with medial rectus recession has been used for the treatment of sixth nerve palsy and esotropic Duane retraction syndrome (DRS). The purpose of this study was to compare the results of augmented SRT (with scleral fixation) without medial rectus recession in DRS and sixth nerve palsy. METHODS: Patients with unilateral esotropic DRS (DRS group) and sixth nerve palsy were included in this prospective, comparative study and underwent SRT...
May 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
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