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Optic ataxia

Laura Emilia Toader, Gabriela Camelia Roşu, Bogdan Cătălin, Ionica Pirici, Ion Cristian Gîlceavă, Valeria Carmen Albu, Anca Maria Istrate-Ofiţeru, Dafin Fior Mureşanu, Daniel Pirici
Multiple sclerosis (MS) is a complex chronic neurodegenerative disease that involves an abnormal autoimmune response directed against the brain, nerves and spinal cord; it is considered the most frequent cause of neurological disability, because MS-associated inflammatory lesions can affect a wide range of systems to a varying degree and may cause a plethora of neurological comorbidities and symptoms. The symptoms are quite variable from patient to patient and depend on the spatial distribution of the central nervous system (CNS) lesions, but usually involve sensory disturbances, cognitive deficits, unilateral vision loss, bladder dysfunction, ataxia, fatigue, double vision, weakness of the limbs and intestinal disorders...
2018: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
Samantha Carrillo-Rosas, Chantal Weber, Lorraine Fievet, Nadia Messaddeq, Alice Karam, Yvon Trottier
Polyglutamine expansion in Ataxin-7 results in Spinocerebellar ataxia type 7 (SCA7) and causes visual impairment. SCA7 photoreceptors progressively lose their outer segments, a structure essential for their visual function. Ataxin-7 is a subunit of the transcriptional coactivator Spt-Ada-Gcn5 Acetyltransferase (SAGA) complex, implicated in the development of the visual system in flies. To determine the function of Ataxin-7 in the vertebrate eye, we have inactivated Ataxin-7 in zebrafish. While Ataxin-7 depletion in flies led to gross retinal degeneration, in zebrafish it primarily results in ocular coloboma, a structural malformation responsible for pediatric visual impairment in human...
November 16, 2018: Human Molecular Genetics
Jennifer Lee, Hannah L Scanga, Kunal K Dansingani, Kenneth J Taubenslag, Leonid Zlotcavitch, Bharesh K Chauhan, Christin L Sylvester, D Holmes Morton, Ken K Nischal
BACKGROUND: Posterior column ataxia retinitis pigmentosa (PCARP) with feline leukemia virus subgroup C cellular receptor 1 (FLVCR1) gene mutation is a rare disorder with significant ophthalmic features. MATERIALS AND METHODS: We conducted a retrospective case series study of patients diagnosed with PCARP and genetic testing positive for FLVCR1 mutation between 1 January 2015 and 1 October 2017 at the Children's Hospital of Pittsburgh. Clinical charts, visual fields, fundus autofluorescence, and spectral-domain optical coherence tomography (SD-OCT) were reviewed...
December 2018: Ophthalmic Genetics
Christian P Roenn, Melody Li, Vivien R Schack, Ian C Forster, Rikke Holm, Mads S Toustrup-Jensen, Jens Peter Andersen, Steven Petrou, Bente Vilsen
The CAPOS (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) syndrome is caused by the single mutation E818K of the α3-isoform of Na+ ,K+ -ATPase. Here, using biochemical and electrophysiological approaches, we examined the functional characteristics of E818K as well as of E818Q and E818A mutants. We found that these amino acid substitutions reduce the apparent Na+ affinity at the cytoplasmic-facing sites of the pump protein and that this effect is more pronounced for the lysine and glutamine substitutions (3- to 4-fold) than for the alanine substitution...
November 8, 2018: Journal of Biological Chemistry
Jiong Ren, Zhibin Niu, Xiaoqin Li, Jie Yang, Meijiao Gao, Xudong Li, Tao Zhang, Lei Fang, Boyang Zhang, Junping Wang, Yongping Su, Fengchao Wang
As compared with 2D cell line cultures, 3D intestinal organoids are better at maximally recapitulating the physiological features of stem cells in vivo. However, the complex 3D structure is an obstacle which must be objectively and automatically evaluated to assess colony growth and regeneration. Meanwhile, no internal standard currently exists for evaluating the size of heterogeneities in organoids or defining those regenerating colonies. Herein, we developed a simple morphometry system to image MTT-stained organoids...
November 5, 2018: Biochemical and Biophysical Research Communications
Leire Juaristi, Cristina Irigoyen, Jorge Quiroga
PURPOSE: To report a case of neuropathy, ataxia, and retinitis pigmentosa syndrome, a rare and undiagnosed disease in ophthalmology due to the need for multidisciplinary evaluation. METHODS: Multimodal testing was performed, including neurologic, ophthalmologic, and genetic assessments. The neurologic tests comprised electromyogram and muscle biopsy; the ophthalmologic examination consisted of slit-lamp and fundus examinations, optical coherence tomography, visual field testing, and electrophysiology tests such as a full-field electroretinogram and multifocal electroretinogram; and genetic tests were performed for spinocerebellar ataxia...
October 19, 2018: Retinal Cases & Brief Reports
Ayako Kashimada, Setsuko Hasegawa, Toshihiro Nomura, Hiroshi Shiraku, Kengo Moriyama, Tomonori Suzuki, Keisuke Nakajima, Tomoko Mizuno, Kohsuke Imai, Yuji Sugawara, Tomohiro Morio, Satoko Kumada, Masatoshi Takagi
OBJECTIVES: Defects in DNA damage responses or repair mechanisms cause numerous rare inherited diseases, referred to as "DNA-repair defects" or "DNA damage deficiency", characterized by neurodegeneration, immunodeficiency, and/or cancer predisposition. Early accurate diagnosis is important for informing appropriate clinical management; however, diagnosis is frequently challenging and can be delayed, due to phenotypic heterogeneity. Comprehensive genomic analysis could overcome this disadvantage...
October 6, 2018: Brain & Development
Justin Yeak, Mimiwati Zahari, Sujaya Singh, Nor Fadhilah Mohamad
BACKGROUND: Acute ophthalmoparesis without ataxia was designated as 'atypical Miller Fisher syndrome' as it presents with progressive, relatively symmetrical ophthalmoplegia, but without ataxia nor limb weakness, in the presence of anti-GQ1b antibody. Idiopathic intracranial hypertension is characterized by signs of raised intracranial pressure occurring in the absence of cerebral pathology, with normal composition of cerebrospinal fluid and a raised opening pressure of more than 20 cmH2 O during lumbar puncture...
October 3, 2018: European Journal of Ophthalmology
Aliaa Ghoneim, Christopher Pollard, John Greene, Ravi Jampana
Balint's syndrome is a rare disorder characterized by a triad of simultanagnosia, optic apraxia, and ocular apraxia. The syndrome manifests when there is an injury to the posterior parietal and occipital lobes and is often bilateral. Several causes of this syndrome were published in the literature, such as trauma, infarctions, infections, tumors, and pre-eclampsia. It can also be the presenting feature of several neurodegenerative disorders, such as atypical Alzheimer's disease. We report a case of a 62-year-old lady who presented with simultanagnosia, optic apraxia, and ocular ataxia which are the typical signs and symptoms of this syndrome...
December 2018: Radiology case reports
Stefania Magri, Valentina Fracasso, Massimo Plumari, Enrico Alfei, Daniele Ghezzi, Cinzia Gellera, Paola Rusmini, Angelo Poletti, Daniela Di Bella, Antonio E Elia, Chiara Pantaleoni, Franco Taroni
Mitochondrial dynamics and quality control are crucial for neuronal survival and their perturbation is a major cause of neurodegeneration. m-AAA complex is an ATP-dependent metalloprotease located in the inner mitochondrial membrane and involved in protein quality control. Mutations in the m-AAA subunits AFG3L2 and paraplegin are associated with autosomal dominant spinocerebellar ataxia (SCA28) and autosomal recessive hereditary spastic paraplegia (SPG7), respectively. We report a novel m-AAA-associated phenotype characterized by early-onset optic atrophy with spastic ataxia and L-dopa-responsive parkinsonism...
December 2018: Human Mutation
Alison Eaton, Francois P Bernier, Caitlin Goedhart, Oana Caluseriu, Ryan E Lamont, Kym M Boycott, Jillian S Parboosingh, A Micheil Innes
PNPT1 is a mitochondrial RNA transport protein that has been linked to two discrete phenotypes, namely isolated sensorineural hearing loss (OMIM 614934) and combined oxidative phosphorylation deficiency (OMIM 614932). The latter has been described in multiple families presenting with complex neurologic manifestations in childhood. We describe adult siblings with biallelic PNPT1 variants identified through WES who presented with isolated severe congenital sensorineural hearing loss (SNHL). In their 40s, they each developed and then followed a nearly identical neurodegenerative course with ataxia, dystonia, and cognitive decline...
September 23, 2018: American Journal of Medical Genetics. Part A
Alexander J Abrams, Flavia Fontanesi, Natalie B L Tan, Elena Buglo, Ion J Campeanu, Adriana P Rebelo, Andrew J Kornberg, Dean G Phelan, Zornitza Stark, Stephan Zuchner
Recessive SLC25A46 mutations cause a spectrum of neurodegenerative disorders with optic atrophy as a core feature. We report a patient with optic atrophy, peripheral neuropathy, ataxia, but not cerebellar atrophy, who is on the mildest end of the phenotypic spectrum. By studying seven different nontruncating mutations, we found that the stability of the SLC25A46 protein inversely correlates with the severity of the disease and the patient's variant does not markedly destabilize the protein. SLC25A46 belongs to the mitochondrial transporter family, but it is not known to have transport function...
December 2018: Human Mutation
Michelle Ham, Julia Han, Kathryn Osann, Moyra Smith, Virginia Kimonis
Autosomal Dominant Optic Atrophy (ADOA) is a neuro-ophthalmic disease characterized by progressive bilateral vision loss, pallor of the optic disc, central vision loss, and impairment of color vision. Additionally, a small percentage of patients experience hearing loss and ataxia, while recent studies suggest disruption of cardiac and neuromuscular functions. In order to obtain a better understanding of the genotype-phenotype correlation of the various mutations in the optic atrophy 1 (OPA1) gene, we obtained both clinical and genetic information of ADOA patients from published reports...
August 27, 2018: Mitochondrion
Hidenobu Shozawa, Akinori Futamura, Yu Saito, Motoyasu Honma, Mitsuru Kawamura, Michael W Miller, Kenjiro Ono
Diagonistic apraxia is a corpus callosal disconnection syndrome. Callosal lesions in Neuromyelitis optica spectrum disorder (NMOSD) have been reported, but callosal disconnection syndrome are rare. A 48-year-old woman was treated for fever and a cough before hospitalization. Her fever abated immediately, but she had balance problems in walking and standing. She also had slurred speech. On neurological examination, she had diagonistic apraxia. Her left hand moved in an uncoordinated way when she moved her right hand: changing her clothes for example or using a knife and fork...
2018: Frontiers in Neurology
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
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...
October 2018: Neuropediatrics
Dalila Forte, Anabela Nabais, Carlos Pontinha, Manuela Mafra, Luís Mateus
BACKGROUND: Neurofibromatosis type 1 (NF1) has been identified as a predisposing factor in the development of pilocytic astrocytoma (PA), a common benign central nervous system tumor. Although this is a common association, simultaneous development of multiple lesions is an infrequent finding, especially in nonoptic and hypothalamic locations. CASE DESCRIPTION: A 41-year-old female patient with NF1 and uncontrolled human immunodeficiency virus (HIV) type 1 infection presented with a first generalized seizure and associated headache and ataxia...
September 2018: World Neurosurgery
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...
October 2018: Neuropediatrics
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
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
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