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Optic ataxia

Gilberto Pires da Rosa, Francisca Costa, Joana Guimarães, Fernando Friões
We report the case of a 50-year-old caucasian man presenting with lumbar pain, bilateral ataxia, central facial palsy, ophthalmoparesis and urinary retention. Cerebral MRI hinted a hyperintensity of the medulla oblongata and cervical medulla suggestive of myelitis. Cerebrospinal fluid displayed lymphocytic pleocytosis and elevated protein concentration. Without the possibility to rule out an infectious or inflammatory aetiology, antibiotics and corticosteroids were started. Nevertheless, neurological status deteriorated with loss of muscle strength and left eye amaurosis...
March 16, 2019: BMJ Case Reports
Pascal Sabouraud, Audrey Riquet, Marie-Aude Spitz, Kumaran Deiva, Sona Nevsimalova, Cyril Mignot, Gaëtan Lesca, Nathalie Bednarek, Diane Doummar, Christine Pietrement, Vincent Laugel
Mutations in ATP1A3 lead to different phenotypes having in common acute neurological decompensation episodes triggered by a specific circumstance and followed by sequelae. Alongside Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorineural hearing loss syndrome (CAPOS), a new Relapsing Encephalopathy with Cerebellar Ataxia (RECA) phenotype was published in 2015. We describe herein eight new pediatric cases. Most of them had no specific history when the first neurological decompensation episode occurred, before the age of 5 years, triggered by fever with severe paralytic hypotonia followed by ataxia with or without abnormal movements...
February 22, 2019: European Journal of Paediatric Neurology: EJPN
Rajech Sharkia, Klaas J Wierenga, Amit Kessel, Abdussalam Azem, Enrico Bertini, Rosalba Carrozzo, Alessandra Torraco, Paola Goffrini, Camilla Ceccatelli Berti, M Eileen McCormick, Barbara Plecko, Andrea Klein, Lucia Abela, Holger Hengel, Ludger Schöls, Stavit Shalev, Morad Khayat, Muhammad Mahajnah, Ronen Spiegel
Mitochondrial aconitase is the second enzyme in the tricarboxylic acid (TCA) cycle catalyzing the interconversion of citrate into isocitrate and encoded by the nuclear gene ACO2. A homozygous pathogenic variant in the ACO2 gene was initially described in 2012 resulting in a novel disorder termed "infantile cerebellar retinal degeneration" (ICRD, OMIM#614559). Subsequently, additional studies reported patients with pathogenic ACO2 variants, further expanding the genetic and clinical spectrum of this disorder to include milder and later onset manifestations...
December 27, 2018: Journal of Inherited Metabolic Disease
Flávio Moura Rezende Filho, Michael H Parkinson, José Luiz Pedroso, Roy Poh, Ingrid Faber, Charles Marques Lourenço, Wilson Marques Júnior, Marcondes Cavalcante França Junior, Fernando Kok, Juliana M Ferraz Sallum, Paola Giunti, Orlando Graziani Póvoas Barsottini
BACKGROUND: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies of phenotype and genotype are necessary to improve diagnosis and elucidate this disorder pathogenesis. OBJECTIVE AND METHODS: To investigate the clinical phenotype, retinal architecture, neuroimaging features and genetic profile of Brazilian patients with ARSACS, we performed neurological and ophthalmological evaluation in thirteen Brazilian patients with molecularly confirmed ARSACS, and examined their mutation profiles...
December 23, 2018: Parkinsonism & related Disorders
Pietro B Azevedo, Anastácia G Rocha, Leda M N Keim, Daniel Lavinsky, Gabriel V Furtado, Eduardo P de Mattos, Fernando R Vargas, Vanessa B Leotti, Maria-Luiza Saraiva-Pereira, Laura B Jardim
Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and retina. SCA7 is quite rare, and insights into biomarkers and pre-clinical phases are still missing. We aimed to describe neurologic and ophthalmological findings observed in symptomatic and pre-symptomatic SCA7 subjects. Several neurologic scales, visual acuity, visual fields obtained by computer perimetry, and macular thickness in optical coherence tomography (mOCT) were measured in symptomatic carriers and at risk relatives...
January 14, 2019: Cerebellum
Rayssa Leal Borges-Medeiros, Laura Durão Ferreira, João Ricardo Mendes de Oliveira
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by symmetrical and bilateral brain calcification. It is typically inherited as an autosomal dominant disorder, and de novo variants have also been described. Interestingly, just recent studies have reported the first autosomal recessive PFBC-causative gene. PFBC patients exhibit high clinical heterogeneity including Parkinsonism, dystonia, ataxia, depression, and migraine. Mice studies, an important research tool, have been a breakthrough in increasing the understanding of PFBC's main signs and symptoms, and many findings reported in these mice have been subsequently reported in patients...
January 3, 2019: Journal of Molecular Neuroscience: MN
Etienne Allart, Hervé Devanne, Arnaud Delval
Parietofrontal (PF) networks link the posterior parietal cortex to premotor and prefrontal areas, and are involved in the control of many motor and cognitive behaviors in healthy humans. In recent years, electrophysiological experiments have provided a better understanding of the functional specificity and temporal involvement of the PF networks' different components during the planning of visually guided upper limb movements. In particular, transcranial magnetic stimulation has been used to temporarily inactivate a cortical area (virtual lesions) or to assess connectivity using paired-pulse protocols))...
December 29, 2018: Clinical Neurophysiology
Stephen H Tsang, Alicia R P Aycinena, Tarun Sharma
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present. Hypogonadism and renal involvement occur in about 40%, mental retardation in about 50%, and truncal obesity in about 70%; it is present early, along with insulin resistance, type 2 diabetes, dyslipidemia, and hypertension...
2018: Advances in Experimental Medicine and Biology
Mieke Hulens, Ricky Rasschaert, Greet Vansant, Ingeborg Stalmans, Frans Bruyninckx, Wim Dankaerts
Purpose: Idiopathic intracranial hypertension (IICH) is a condition characterized by raised intracranial pressure (ICP), and its diagnosis is established when the opening pressure measured during a lumbar puncture is elevated >20 cm H2 O in nonobese patients or >25 cm H2 O in obese patients. Papilledema is caused by forced filling of the optic nerve sheath with cerebrospinal fluid (CSF). Other common but underappreciated symptoms of IICH are neck pain, back pain, and radicular pain in the arms and legs resulting from associated increased spinal pressure and forced filling of the spinal nerves with CSF...
2018: Journal of Pain Research
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...
December 2, 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
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