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Optic ataxia

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https://www.readbyqxmd.com/read/30015775/chorioretinal-changes-in-a-genetically-confirmed-case-of-boucher-neuh%C3%A3-user-syndrome
#1
Brittany B DeNaro, Elona Dhrami-Gavazi, David M Rubaltelli, K Bailey Freund, Winston Lee, Lawrence A Yannuzzi, Stephen H Tsang, Joann J Kang
PURPOSE: To describe the retinal findings in a 25-year-old white woman in whom a diagnosis of Boucher-Neuhäuser Syndrome (BNS) was supported by genetic testing, which identified a missense and novel nonsense mutation in the PNPLA6 gene. METHODS: Observational case report of a 25-year-old woman who presented with primary amenorrhea, cerebellar ataxia, and mild retinal pigmentary abnormalities. Neurologic, endocrine, and genetic evaluations established a diagnosis of BNS...
July 13, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/30011403/early-life-epilepsy-and-episodic-apnea-revealing-an-atp1a3-mutation-report-of-a-pediatric-case-and-literature-review
#2
Thouraya Ben Younes, Hanene Benrhouma, Hedia Klaa, Aida Rouissi, Myriam Chaabouni, Ichraf Kraoua, Ilhem Ben Youssef-Turki
ATP1A3 mutations have now been recognized in infants, children, and adults presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and most recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. The phenotypic spectrum of ATP1A3 -related neurological disorders continues to expand. In this case study, we report on early life epilepsy with episodic apnea potentially secondary to ATP1A3 mutation in a Tunisian child...
July 16, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29908379/simultaneous-supratentorial-and-infratentorial-pilocytic-astrocytoma-in-an-adult-patient-with-concurrent-neurofibromatosis-type-1-and-hiv-infection
#3
Dalila Forte, Anabela Nabais, Carlos Pontinha, Manuela Mafra, Luís Mateus
BACKGROUND: Neurofibromatosis type 1 (NF1) is a tumour predisposing condition, being Pilocytic Astrocytomas (PA) a common benign central nervous system (CNS) tumour occurring in this setting. Although this is a common association, simultaneous development of multiple lesions is an infrequent finding, especially in non-optic or hypothalamic locations. CLINICAL CASE: A 41 year-old female patient with neurofibromatosis type 1 and uncontrolled human immunodeficiency virus (HIV) type 1 infection presents with a first generalized seizure and associated headache and ataxia...
June 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29801192/variants-in-the-atp1a3-gene-mutations-within-severe-apnea-starting-in-early-infancy-an-observational-study-of-two-cases-with-a-possible-relation-to-epileptic-activity
#4
Niklas Holze, Andreas van Baalen, Ulrich Stephani, Ingo Helbig, Hiltrud Muhle
Mutations in the ATP1A3 gene are known to cause alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism (RDP). Both conditions are childhood-onset neurological disorders with distinct symptoms and different times of onset. ATP1A3 has also been associated with CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss). Within the various ATP1A3 -related neurological syndromes, a specific genotype-phenotype correlation is starting to emerge...
May 25, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29755396/overlapping-autoimmune-syndromes-in-patients-with-glial-fibrillary-acidic-protein-antibodies
#5
Xinguang Yang, Huiming Xu, Meilin Ding, Qingmei Huang, Baikeng Chen, Huacai Yang, Tianni Liu, Youming Long, Cong Gao
Background: Glial fibrillary acidic protein (GFAP) astrocytopathy, an autoimmune central nervous system disorder with a specific GFAP-IgG, often coexists with other antibodies. Objective: The aim of this article was to study overlapping syndromes in autoimmune GFAP astrocytopathy. Methods: Antibody was detected by indirect immunofluorescence assay. Patient data were analyzed retrospectively. Results: Thirty patients with positive GFAP-IgG were included, of whom 10 were defined as overlapping syndrome...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29753755/polarization-sensitive-optical-coherence-tomography-reveals-gray-matter-and-white-matter-atrophy-in-sca1-mouse-models
#6
Chao J Liu, Orion Rainwater, H Brent Clark, Harry T Orr, Taner Akkin
Spinocerebellar ataxia type 1 (SCA1) is a fatal inherited neurodegenerative disease. In this study, we demonstrate the label-free optical imaging methodology that can detect, with a high degree of sensitivity, discrete areas of degeneration in the cerebellum of the SCA1 mouse models. We used ATXN1[82Q] and ATXN1[30Q]-D776 mice in which the transgene is directed only to Purkinje cells. Molecular layer, granular layer, and white matter regions are analyzed using the intrinsic contrasts provided by polarization-sensitive optical coherence tomography...
August 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29741274/neurologic-impairments-from-pediatric-low-grade-glioma-by-tumor-location-and-timing-of-diagnosis
#7
Zsila S Sadighi, Elizabeth Curtis, Jennifer Zabrowksi, Catherine Billups, Amar Gajjar, Raja Khan, Ibrahim Qaddoumi
BACKGROUND: The neurologic outcomes of low-grade gliomas (LGGs) according to tumor location and duration of presenting symptoms remain poorly characterized in children. PROCEDURE: We retrospectively reviewed neurologic impairments in 246 pediatric patients with LGGs (88 with optic pathway and midline tumors, 56 with posterior fossa tumors, 52 with cerebral hemisphere tumors, 35 with brainstem tumors, and 15 with spinal cord tumors) who were treated at St. Jude Children's Research Hospital between 1995 and 2005...
August 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29656927/pontocerebellar-hypoplasia-type-1-for-the-neuropediatrician-genotype-phenotype-correlations-and-diagnostic-guidelines-based-on-new-cases-and-overview-of-the-literature
#8
I Ivanov, D Atkinson, I Litvinenko, L Angelova, S Andonova, H Mumdjiev, I Pacheva, M Panova, R Yordanova, V Belovejdov, A Petrova, M Bosheva, T Shmilev, A Savov, A Jordanova
Pontocerebellar hypoplasia type 1 (PCH1) is a major cause of non-5q spinal muscular atrophy (SMA). We screened 128 SMN1-negative SMA patients from Bulgaria for a frequent mutation -p.G31A in EXOSC3, and performed a literature review of all genetically verified PCH1 cases. Homozygous p.G31A/EXOSC3 mutation was identified in 14 Roma patients, representing three fourths of all our SMN1-negative Roma SMA cases. The phenotype of the p.G31A/EXOSC3 homozygotes was compared to the clinical presentation of all reported to date genetically verified PCH1 cases...
July 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29628597/anesthetic-management-in-pediatric-patient-for-percutaneous-endoscopic-gastrostomy-with-mitochondrial-myopathy-leigh-syndrome
#9
Ebru Tarikçi Kiliç, Nelgin Gerenli, Mehmet Salim Akdemir, Necmi Onur Tastan, Egemen Atag
Leigh syndrome (LS) is a rare disease mainly affecting the central nervous system due to the abnormalities of mitochondrial energy generation and seen in early childhood with progressive loss of movement, mental abilities, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Anesthesia and surgery exacerbate the risks of aspiration, wheezing, and breathing difficulties. Tracheal irritability can be stimulated with the efforts of intubation. We report the anesthetic management of a rare case of an 11-year-old boy with a severe form of LS for percutaneous endoscopic gastrostomy insertion...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29625811/further-characterization-of-capos-caos-syndrome-with-the-glu818lys-mutation-in-the-atp1a3-gene-a-case-report
#10
Takuya Hayashida, Yoshiaki Saito, Atsushi Ishii, Shinichi Hirose, Rika Hiraiwa, Yoshihiro Maegaki, Kousaku Ohno
A 38-year-old female patient experienced recurrent episodes of neurological deterioration during febrile illness at the age of 7 and 8 months, and 2, 4, and 37 years. Acute symptoms comprised unconsciousness, headache, abnormal ocular movements, flaccid paralysis with areflexia, ataxia, dysphagia, and movement disorders. Each episode of neurological deterioration was followed by partial recovery with residual symptoms of progressive disturbance of visual acuity with optic atrophy and hearing loss, moderate intellectual disability, strabismus, ophthalmoplegia, as well as fluctuating degree of gait ataxia, chorea, tremor, and myoclonus...
August 2018: Brain & Development
https://www.readbyqxmd.com/read/29618326/a-novel-homozygous-mutation-in-polr3a-gene-causing-4h-syndrome-a-case-report
#11
Vishal V Tewari, Ritu Mehta, C M Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra
BACKGROUND: 4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mutations in the POLR3A or POLR3B gene. The clinical presentation is of neurodevelopmental delay or regression with ataxia, dystonia, nystagmus, delayed deciduous dentition and abnormal order of eruption of teeth. MRI brain shows a characteristic hypomyelination pattern...
April 4, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29538656/optical-coherence-tomography-in-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#12
Michael H Parkinson, Ana P Bartmann, Lisa M S Clayton, Suran Nethisinghe, Rolph Pfundt, J Paul Chapple, Mary M Reilly, Hadi Manji, Nicholas J Wood, Fion Bremner, Paola Giunti
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare neurodegenerative disorder caused by mutations in the SACS gene. Thickened retinal nerve fibres visible on fundoscopy have previously been described in these patients; however, thickening of the retinal nerve fibre layer as demonstrated by optical coherence tomography appears to be a more sensitive and specific feature. To test this observation, we assessed 292 individuals (191 patients with ataxia and 101 control subjects) by peripapillary time-domain optical coherence tomography...
April 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29519464/the-history-of-the-neurophysiology-and-neurology-of-the-parietal-lobe
#13
Giovanni Berlucchi, Giuseppe Vallar
The development and change of knowledge on the function of the parietal lobe from the second half of the 19th century to the early 1970s are reviewed. Motor and somatosensory functions were initially localized in a broad frontoparietal region. At the beginning of the 20th century the motor cortex was restricted to the posterior frontal lobe. The separate attribution of somatosensory functions to the parietal lobe was initially based on anatomic considerations, but mostly on localized bodily sensations elicited by electric stimulation in awake patients...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29519461/bilateral-parietal-dysfunctions-and-disconnections-in-simultanagnosia-and-b%C3%A3-lint-syndrome
#14
Magdalena Chechlacz
In 1909 Rezsö Bálint published an extraordinary case study of a man with complex visuospatial deficits resulting from bilateral parietal lesions. Despite some controversies over the nature of reported symptoms, in 1954 Hecaen and Ajuriaguerra conceived the term "Bálint syndrome," not only to honor Bálint's influential work but to firmly conceptualize this striking neurologic disorder. Nowadays it is largely agreed that, while Bálint syndrome may result from multiple etiologies, it is principally diagnosed based on the presence of three symptoms: simultanagnosia, optic ataxia, and ocular apraxia...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29519460/optic-ataxia-beyond-the-dorsal-stream-clich%C3%A3
#15
Yves Rossetti, Laure Pisella
This chapter reviews clinical and scientific approaches to optic ataxia. This double historic track allows us to address important issues such as the link between Bálint syndrome and optic ataxia, the alleged double dissociation between optic ataxia and visual agnosia, and the use of optic ataxia to argue for a specific vision-for-action occipitoposterior parietal stream. Clinical cases are described and reveal that perceptual deficits have been long shown to accompany ataxia. Importantly, the term ataxia appears to be misleading as patients exhibit a combination of visual and nonvisual perceptual, attentional, and visuomotor guidance deficits, which are confirmed by experimental approaches...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29490390/-hereditary-optic-neuropathies
#16
Klaus Rüther
Hereditary optic nerve disorders are rare. For ophthalmologists, Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are of particular relevance. LHON and ADOA are diseases of the retinal ganglion cells and are caused by mitchochondrial dysfunction. LHON is based on mutations of the mitochondrial, ADOA of the nuclear DNA. LHON is a disease that usually leads to severe visual impairment (visual acuity < 0.1). Since there is an approved therapy for LHON (Idebenone [Raxone]), the diagnosis has to be confirmed immediately by means of molecular genetic diagnostics...
June 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29481804/cytochrome-c-oxydase-deficiency-surf1-gene-investigation-in-patients-with-leigh-syndrome
#17
Marwa Maalej, Thouraya Kammoun, Olfa Alila-Fersi, Marwa Kharrat, Marwa Ammar, Rahma Felhi, Emna Mkaouar-Rebai, Leila Keskes, Mongia Hachicha, Faiza Fakhfakh
Leigh syndrome (LS) is a rare progressive neurodegenerative disorder occurring in infancy. The most common clinical signs reported in LS are growth retardation, optic atrophy, ataxia, psychomotor retardation, dystonia, hypotonia, seizures and respiratory disorders. The paper reported a manifestation of 3 Tunisian patients presented with LS syndrome. The aim of this study is the MT[HYPHEN]ATP6 and SURF1 gene screening in Tunisian patients affected with classical Leigh syndrome and the computational investigation of the effect of detected mutations on its structure and functions by clinical and bioinformatics analyses...
March 18, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29468182/-gls-loss-of-function-causes-autosomal-recessive-spastic-ataxia-and-optic-atrophy
#18
David S Lynch, Viorica Chelban, Jana Vandrovcova, Alan Pittman, Nicholas W Wood, Henry Houlden
We describe a consanguineous family in which two brothers were affected by childhood onset spastic ataxia with optic atrophy and loss of motor and language skills. Through a combination of homozygosity mapping and whole-genome sequencing, we identified a homozygous copy number variant in GLS as the cause. The duplication leads to complete knockout of GLS expression. GLS encodes the brain- and kidney-specific enzyme glutaminase, which hydrolyzes glutamine for the production of glutamate, the most abundant central nervous system neurotransmitter...
February 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29397530/childhood-rapid-onset-ataxia-expanding-the-phenotypic-spectrum-of-atp1a3-mutations
#19
Tommaso Schirinzi, Federica Graziola, Francesco Nicita, Lorena Travaglini, Fabrizia Stregapede, Massimiliano Valeriani, Paolo Curatolo, Enrico Bertini, Federico Vigevano, Alessandro Capuano
ATP1A3 mutations are related to a wide spectrum of clinical conditions, including several defined syndromes as rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS), together with many other intermediate phenotypes. Ataxia is always more increasingly reported, either as accessory or prominent sign, in ATP1A3-related conditions, being thus considered as a peculiar feature of this spectrum...
August 2018: Cerebellum
https://www.readbyqxmd.com/read/29396171/atp1a3-spectrum-disorders-a-video-documented-history-of-7-genetically-confirmed-early-onset-cases
#20
Michela Stagnaro, Livia Pisciotta, Marcella Gherzi, Maja Di Rocco, Fiorella Gurrieri, Elena Parrini, Giulia Prato, Edvige Veneselli, Elisa De Grandis
Mutations in the ATP1A3 gene, which encodes the alpha3 -subunit of sodium-potassium ATPase, are related to a spectrum of neurological diseases including Rapid onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss (CAPOS) syndrome. Moreover, an increasing number of patients with intermediate and non classical phenotypes have been reported. Herein we describe 7 patients with 6 different de novo ATP1A3 mutations, and we focus on paroxysmal and chronic movement disorders with the help of video documentation...
March 2018: European Journal of Paediatric Neurology: EJPN
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