Genomes and Genes
Summary: Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles.
Publications229 found, 100 shown here
- A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegiaNicole Monnier
Laboratoire de Biochimie de l ADN EA 2943, CHU Grenoble, France
Hum Mol Genet 12:1171-8. 2003..The 14646+2.99 kb A-->G mutation was associated with the classical form of MmD with ophthalmoplegia, whose genetic basis was previously unknown...
- Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)Koki Yamada
Department of Medicine Genetics, Enders 5, Children s Hospital Boston, 300 Longwood Avenue, Boston, Massachusetts 02115, USA
Nat Genet 35:318-21. 2003..We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis...
- Retinopathy in patients with diabetic ophthalmoplegiaGolge Acaroglu
Department of Neuroophthalmology, Ministry of Health Ulucanlar Eye Hospital, Ankara, Turkey
Ophthalmologica 222:225-8. 2008..To compare patients with palsy of the 3rd, 4th or 6th cranial nerve due to diabetes mellitus (DM) with controls matched for age, sex and disease duration in terms of the presence and severity of diabetic retinopathy...
- Ophthalmoplegia with migraine in adults: is it ophthalmoplegic migraine?Vivek Lal
Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
Headache 49:838-50. 2009..We report 62 adults, seen consecutively, who developed acute ophthalmoplegia with severe attacks of migraine over a 10-year (1996-2005) period...
- Unilateral ophthalmoplegia secondary to anterior clinoid process mucoceleBoaz Forer
Department of Otolaryngology Head and Neck Surgery, Singapore General Hospital, Singapore
J Neuroophthalmol 30:321-4. 2010A 50-year-old Chinese man presented with rapidly progressive unilateral ophthalmoplegia and then an ipsilateral afferent pupil defect...
- Valosin-containing protein and neurofibromin interact to regulate dendritic spine densityHsiao Fang Wang
Institute of Molecular Biology, Academia Sinica, Taipei, Taiwan
J Clin Invest 121:4820-37. 2011..The data presented here demonstrate that there is a link between IBMPFD and NF1 and indicate a role for VCP in synapse formation...
- A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and ParkinsonismMichelangelo Mancuso
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
Arch Neurol 61:1777-9. 2004Mutations in polymerase gamma cause progressive external ophthalmoplegia and a variety of associated symptoms and signs, including neuropathy, ataxia, hypogonadism, hearing loss, muscle weakness, and psychiatric problems...
- Pupil involvement in patients with diabetes-associated oculomotor nerve palsyD M Jacobson
Department of Neurology, Marshfield Clinic, Wis 54449, USA
Arch Ophthalmol 116:723-7. 1998..To derive a reliable estimate of the frequency of pupil involvement in patients with diabetes-associated oculomotor nerve palsy...
- Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutationsHoma Tajsharghi
Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden
Brain 133:1451-9. 2010..The relatively mild phenotype is interesting in relation to the more severe phenotypes generally seen in relation to recessive null mutations in sarcomeric proteins...
- Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutationsVincent Laugel
Department of Pediatrics, Strasbourg University Hospital, Strasbourg, France
Pediatr Neurol 36:54-7. 2007..biochemical, and molecular data of a 7-year-old male who presented at the age of 7 months with progressive ophthalmoplegia and later developed cerebellar ataxia, spasticity, and dystonia...
- Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gammaMassimiliano Filosto
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Arch Neurol 60:1279-84. 2003The mendelian forms of progressive external ophthalmoplegia (PEO) associated with multiple mitochondrial DNA deletions are clinically heterogeneous disorders transmitted as dominant or recessive traits...
- Only transient increase of serum CoQ subset 10 during long-term CoQ10 therapy in mitochondrial ophthalmoplegiaFrank Hanisch
Neurological Departement, University of Halle Wittenberg, Ernst Grube Strasse 40, D 06097 Halle Saale, Germany
Eur J Med Res 8:485-91. 2003..Coenzyme Q10 (CoQ10) is frequently administered in mitochondrial diseases. Mitochondrial dysfunction and CoQ10 treatment was also proposed in neurodegenerative disorders as amyotrophic lateral sclerosis and Parkinsons disease...
- Arachnoid cyst causing third cranial nerve palsy manifesting as isolated internal ophthalmoplegia and iris cholinergic supersensitivityLamees Ashker
Department of Ophthalmology, Penn State University, Milton S Hershey Medical Center, Hershey, Pennsylvania 17033, USA
J Neuroophthalmol 28:192-7. 2008..The initial diagnosis was postganglionic internal ophthalmoplegia attributed to a viral ciliary ganglionopathy...
- Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)Koki Yamada
Department of Genetics, Children s Hospital, and Harvard Medical School, Boston, Massachusetts 02115, USA
Invest Ophthalmol Vis Sci 45:2218-23. 2004..Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis...
- Anticholinesterase therapy for patients with ophthalmoplegia following snake bites: report of two casesSung Woo Lee
Department of Emergency Medicine, College of Medicine, Korea University, Seoul, Korea
J Korean Med Sci 19:631-3. 2004Although ophthalmoplegia following snake bites is not indicative of a serious neurotoxic complication, symptoms of diplopia, dizziness and ocular discomfort can be emotionally devastating for patients...
- A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12Alexander Lossos
Department of Neurology, Agnes Ginges Center for Human Neurogenetics, Hadassah Hebrew University Hospital, POB 12000, Jerusalem 91120, Israel
Brain 128:42-51. 2005..autosomal recessive myopathy of early onset and very slow progression distinguished by the prominent external ophthalmoplegia in 16 subjects of eight families from a large and highly inbred Arab community...
- Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1T Martinsson
Department of Clinical Genetics, Sahlgrenska University Hospital Ostra, S 416 85 Gothenburg, Sweden
Am J Hum Genet 64:1420-6. 1999..an autosomal dominant inclusion-body myopathy characterized by congenital joint contractures, external ophthalmoplegia, and predominantly proximal muscle weakness...
- Central retinal artery occlusion and ophthalmoplegia following spinal surgery in the prone positionT Asok
Eye Department, Sarawak General Hospital, Kuching, Sarawak, Malaysia
Med J Malaysia 64:323-4. 2009..In the immediate postoperative period, he developed right proptosis, periorbital swelling, chemosis and total ophthalmoplegia. The vision in his right eye was only counting fingers and the intraocular pressure was 68 mmHg...
- Bilateral internuclear ophthalmoplegia and clivus fracture following head injury: case reportLeonardo Bonilha
Disciplina de Neurocirurgia, Departamento de Neurologia, Faculdade de Ciencias Medicas, Universidade Estadual de Campinas, Brasil
Arq Neuropsiquiatr 60:636-8. 2002Internuclear ophthalmoplegia is a remarkable finding, particularly in patients victims of head injury...
- Bilateral painful idiopathic ophthalmoplegia: a case reportAndrea Nieri
Universidade Estadual Paulista Julio de Mesquita Filho, Clinical Neurology, Botucatu, SP, Brazil
Headache 47:848-51. 2007Around 3% of the individuals with painful ophthalmoplegia have bilateral complaints. In the vast majority of these cases, appropriate investigation demonstrates a secondary etiology, and we are not aware of idiopathic cases reported...
- Ophthalmoplegia in tiger snake envenomationMervyn Ferdinands
Department of Neurosciences, Royal Melbourne Hospital, Grattan Street, Melbourne, Parkville 3050, Victoria, Australia
J Clin Neurosci 13:385-8. 2006..The paresis was partially resolved by the time of discharge one week later. The present case report discusses the possible mechanisms for the delayed development of ophthalmoplegia.
- Transient internal ophthalmoplegia after inferior oblique myectomyJohn C Bladen
Chelsea and Westminster Hospital, London, United Kingdom
J AAPOS 13:596-7. 2009Internal ophthalmoplegia causing pupillary dilatation and loss of accommodation following damage to the ciliary ganglion is a rare complication of strabismus surgery...
- A case of complete ophthalmoplegia in herpes zoster ophthalmicusHyun Min Shin
Department of Ophthalmology, Pochun CHA University College of Medicine, Pundang CHA Hospital, Sungnam, Korea
Korean J Ophthalmol 19:302-4. 2005To report a case with complete ophthalmoplegia after herpes zoster ophthalmicus.
- Congenital fibrosis of extraocular muscles type 1 with progression of ophthalmoplegiaF Hanisch
Klinik und Poliklinik fur Neurologie, Martin Luther Universitat Halle Wittenberg, D 06097 Halle Saale, Germany
Eur J Med Res 10:366-8. 2005..Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is a congenital, non-progressive autosomal-dominant disorder with bilateral oculomotor nerve palsy due to mutations in the kinesin motor protein gene KIF21A. -..
- Diplopia, blepharoptosis, and ophthalmoplegia and 3-hydroxy-3-methyl-glutaryl-CoA reductase inhibitor useF W Fraunfelder
Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, Portland, Oregon 97239 4197, USA
Ophthalmology 115:2282-5. 2008To report the association between 3-hydroxy-3-methyl-glutaryl-CoA (HMG-CoA) reductase inhibitors (statins) and diplopia, blepharoptosis (ptosis), and ophthalmoplegia.
- Esthesioneuroblastoma presenting with complete external ophthalmoplegiaSheila M García-Santana
University of Puerto Rico School of Medicine, San Juan, Puerto Rico
Semin Ophthalmol 24:245-6. 2009..Neuroimaging revealed a mass involving the medial wall of the left cavernous sinus, without orbital involvement. Biopsy of the mass provided a pathologic diagnosis of esthesioneuroblastoma...
- Ophthalmoplegia in Powassan encephalitisSimmons Lessell
Neuro Ophthalmology Unit, Massachusetts Eye and Ear Infirmary and Harvard Medical School, Boston, MA, USA
Neurology 60:1726-7. 2003
- [Internuclear ophthalmoplegia--causes, symptoms and management]Iwona Obuchowska
Z Kliniki Okulistyki Uniwersytetu Medycznego w Białymstoku
Klin Oczna 111:165-7. 2009Internuclear ophthalmoplegia (INO) is a disorder of eye movements caused by a lesion in an area of the brain called the medial longitudinal fasciculus (MLF). The most common causes of INO are multiple sclerosis and brainstem infarction...
- Isolated ptosis as acute ophthalmoplegia without ataxia, positive for anti-GQ1b immunoglobulin GGeetanjali Jindal
Department of Pediatrics, Government Medical College, Sector 32, Chandigarh, India
Pediatr Neurol 41:451-2. 2009Anti-GQ1b IgG antibody syndrome comprises a wide range of diseases presenting with ophthalmoplegia and ataxia...
- Complete ophthalmoplegia with pupillary involvement as an initial clinical presentation of herpes zoster ophthalmicusTayson Delengocky
South Texas Retina Consultants in Corpus Christi, McAllen, Tex, USA
J Am Osteopath Assoc 108:615-21. 2008..The present case may be the first to identify a patient with complete ophthalmoplegia with pupil involvement as a pre-eruptive manifestation of herpes zoster...
- Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNACharalampos L Karadimas
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
Neuromuscul Disord 12:865-8. 2002..At age 16, she developed bilateral ptosis, progressive external ophthalmoplegia, and exercise intolerance...
- Blepharoptosis and external ophthalmoplegia associated with long-term antiretroviral therapyWarren L Dinges
Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390 9103, USA
Clin Infect Dis 47:845-52. 2008..without prior ART association, is usually caused by age-associated involutional ptosis, but it is also seen in mitochondrial myopathies with external ophthalmoplegia, cardiac conduction disturbances, and neurological impairments.
- Ophthalmoplegia secondary to raised intracranial pressure after unilateral neck dissection with internal jugular vein sacrificeMatthew J A Ward
Department of ENT, Southampton General Hospital, Southampton, UK
Head Neck 33:587-90. 2011..Potential complications include intracranial hypertension. This is well documented after bilateral neck dissection, although only scattered reports exist after unilateral IJV sacrifice...
- Invasive aspergillosis producing painful ophthalmoplegiaC A Siraj
Department of Neurology, Medical College Hospital, Kozhikode, India 673 008
J Assoc Physicians India 53:901-2. 2005Painful ophthalmoplegia is caused by the lesions of orbital apex and anterior cavernous sinus. Cavernous sinus syndrome can be produced by intracranial invasive aspergillosis...
- Adduction on attempted abduction: the opposite of synergistic divergenceJae Hyoung Kim
Arch Ophthalmol 124:918-20. 2006
- Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2AThomas M Bosley
Neuro Ophthalmology Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia
Brain 129:2363-74. 2006..Clinical presentation, neuroimaging and Phox2a-/- animal models all support the concept that CFEOM2 is a primary neurogenic abnormality with secondary myopathic changes...
- Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegiaEleonora Lamantea
Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, Milan, Italy
Ann Neurol 52:211-9. 2002One form of familial progressive external ophthalmoplegia with multiple mitochondrial DNA deletions recently has been associated with mutations in POLG1, the gene encoding pol gammaA, the catalytic subunit of mitochondrial DNA polymerase...
- MRI findings in a case of ophthalmoplegic migraineE W Stommel
Section of Neurology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire 03756
Headache 33:234-7. 1993..There is little published information on MRI of cranial nerves in patients with migraine headaches with ophthalmoplegia. We present a case of ophthalmoplegic migraine with a cranial nerve abnormality which was subsequently shown ..
- Complete unilateral ophthalmoplegia in herpes zoster ophthalmicusSrinivasan Sanjay
Department of Ophthalmology and Visual Sciences, Alexandra Hospital, Singapore
J Neuroophthalmol 29:325-37. 2009..between 1968 and 2008, herpes zoster ophthalmicus (HZO) may rarely be associated with complete unilateral ophthalmoplegia, defined here as impaired ocular ductions in all 4 directions within 3 months of onset of manifestations of ..
- Resolution of MRI abnormalities of the oculomotor nerve in childhood ophthalmoplegic migraineJ M Prats
Division of Child Neurology, Hospital de Cruces, Basque Country, Spain
Cephalalgia 19:655-9. 1999..The very long potential duration of MRI changes and the scarcity of clinical episodes make feasible its incident discovery once the migraine attack has become a remote memory...
- Another VCP interactor: NF is enoughConrad C Weihl
Department of Neurology, Washington University School of Medicine, Saint Louis, Missouri 63110, USA
J Clin Invest 121:4627-30. 2011..Thus, aberrant interactions between VCP and NF1 may explain the dementia phenotype and cognitive delay observed in patients with IBMPFD and neurofibromatosis type 1...
- Ophthalmoplegic migraine: migrainous or inflammatory?D H van der Dussen
Cephalalgia 24:312-5. 2004
- Ophthalmoplegic migraine with reversible enhancement of intraparenchymal abducens nerve on MRITe Gyu Lee
Department of Neurology, Kyung Hee University Hospital, Seoul, Korea
Headache 42:140-1. 2002..The enhancing linear lesion was felt to represent intraparenchymal fibers of the affected abducens nerve. The possible pathophysiology of this unique finding is discussed...
- Ophthalmoplegic migraine with reversible thalamic ischemia shown by brain SPECTDong Jin Shin
Department of Neurology, Gil Medical Center, Gachon Medical College, Inchon, South Korea
Headache 42:132-5. 2002..In both patients, SPECT during an attack of ophthalmoplegia and headache demonstrated significantly decreased regional cerebral blood flow (rCBF) in the thalamus on the ..
- Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuolesN Darin
Department of Pediatrics, Sahlgrenska University Hospital, Goteborg, Sweden
Ann Neurol 44:242-8. 1998..clinical features were congenital joint contractures, which normalized during early childhood, external ophthalmoplegia, and proximal muscle weakness. Muscle atrophy was most prominent in the pectoralis and quadriceps muscles...
- Visual loss and ophthalmoplegia after shoulder surgeryM Tariq Bhatti
Department of Ophthalmology, University of Florida College of Medicine, Gainesville 32610 0284, USA
Anesth Analg 96:899-902, table of contents. 2003..The etiology of postoperative visual loss and eye movement dysfunction is complex and multifactorial. In many cases, more than one perioperative factor may be associated with an adverse ophthalmic outcome...
- Ophthalmoplegic migraine: a case with recurrent palsy of the abducens nerveLuiz Paulo Vasconcelos
Federal University of Minas Gerais UFMG Internal Medicine Clínica Médica, Belo Horizonte, Brazil
Headache 48:961-4. 2008..In this article, we report a patient with OM that presented recurrent palsy of the abducens nerve and other atypical features. Case reports of OM with abducens nerve palsy were also reviewed...
- CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIXElizabeth C Engle
Division of Genetics, Childrens Hospital, Boston, MA, USA
BMC Genet 3:3. 2002..These syndromes are characterized by congenital restrictive ophthalmoplegia affecting muscles in the oculomotor and trochlear nerve distribution...
- Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12E C Engle
Department of Neurology, Howard Hughes Medical Institute, Children s Hospital, Harvard Medical School, Boston, Massachusetts 02115
Nat Genet 7:69-73. 1994..dominant, ocular disorder characterized by congenital, nonprogressive, bilateral ptosis and external ophthalmoplegia. The pathophysiology of this disorder is unknown and it is unclear if it has a primary neurogenic or ..
- Near reflex substituting for acquired horizontal gaze palsy: a case reportTomoko Kohno
Department of Ophthalmology, Tokyo Women s Medical University, Tokyo, Japan
Jpn J Ophthalmol 48:584-6. 2004..This substitution phenomenon is very rare. We report a patient with horizontal gaze palsy who was able to use convergence to compensate for the lack of adduction in the left eye...
- Magnetic resonance imaging in ophthalmoplegic migraine of childrenR T Anderson
Department of Surgery, , Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA
J AAPOS 5:307-10. 2001..b>Ophthalmoplegia resolved spontaneously in 1 child and after steroid treatment in the other...
- Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patientsLeila Tiab
IRO Institut de Recherche en Ophtalmologie, Sion, Switzerland
Ophthalmic Genet 25:241-6. 2004CFEOM type 1 refers to a group of congenital eye movement disorders that is characterized by nonprogressive ophthalmoplegia affecting all the extraocular muscles...
- Elevated visual motion detection thresholds in adults with acquired ophthalmoplegiaJ F Acheson
Department of Neuro Ophthalmology, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
Br J Ophthalmol 85:1447-9. 2001To test the hypothesis that in patients with acquired chronic bilateral ophthalmoplegia, abnormal retinal image slippage during head movements would result in abnormal thresholds for visual perception of motion.
- An approach to the patient with painful ophthalmoplegia, with a focus on Tolosa-Hunt syndromeJonathan P Gladstone
Gladstone Headache Clinic, Toronto, Ontario M2J 1V1, Canada
Curr Pain Headache Rep 11:317-25. 2007The differential diagnosis of painful ophthalmoplegia is extensive and consists of numerous sinister etiologies, including neoplasms (ie, primary intracranial tumors, local or distant metastases), vascular (eg, aneurysm, carotid ..
- Atypical phenotypes in patients with facioscapulohumeral muscular dystrophy 4q35 deletionMichael Krasnianski
Department of Neurology, Martin Luther University Halle Wittenberg, Halle Salle, Germany
Arch Neurol 60:1421-5. 2003..Recent studies have shown that this deletion is found in patients with other phenotypes in addition to those with the classic Landouzy-Dejerine FSHD phenotype...
- Ophthalmoplegia in diabetes mellitus: a retrospective studyDomenico Greco
Division of Diabetology, S Biagio Hospital, Marsala TP, Italy
Acta Diabetol 46:23-6. 2009b>Ophthalmoplegia, despite being a rare entity in diabetes mellitus, is associated with great anxiety for the patients and often appears to be a serious problem from a diagnostic and therapeutic point of view...
- Is migraine with cranial nerve palsy an ophthalmoplegic migraine?Pierric Giraud
Service de Neurologie A, Centre Hospitalier de la Région Annécienne, 1 Avenue du Tresum, F 74000, Annecy, France
J Headache Pain 8:119-22. 2007..A biological blood test and an MRI are systematically required to help clinicians in their diagnosis and to exclude alternative aetiology of headache with palsy...
- Vestibular perception in patients with acquired ophthalmoplegiaE A Grunfeld
Psychology Unit, King s College London, Guy s Hospital, UK
Neurology 60:1993-5. 2003Using a perceptual technique it is shown that patients with chronic external ophthalmoplegia have shortened vestibular responses...
- Ophthalmoplegic migraineMorris Levin
Section of Neurology, Dartmouth Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH 03756, USA
Curr Pain Headache Rep 8:306-9. 2004..Differential diagnosis is rather large, although most other possible causes of ophthalmoplegia and headache have distinctive presentations or can be excluded with fairly straightforward diagnostic testing...
- Ophthalmoplegic migraine: an unresolved problemL Crevits
Department of Neurology, Oto Neuro Ophthalmology Unit, Ghent University Hospital, Ghent, Belgium
Cephalalgia 26:1255-9. 2006
- External ophthalmoplegia due to ocular myositis in a patient with ophthalmic herpes zosterM Krasnianski
Department of Neurology, Martin Luther University Halle Wittenberg, Halle Saale, Germany
Neuromuscul Disord 14:438-41. 2004..We describe a patient with ophthalmic zoster and external ophthalmoplegia due to ocular myositis demonstrated by MR imaging...
- Congential fibrosis of the extraocular muscles type I (CFEOM1) on the Arabian PeninsulaArif O Khan
Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, KSA
Ophthalmic Genet 29:25-8. 2008..To assess for KIF21A mutation in the first two reported Saudi Arabian families with the classic phenotype of congenital fibrosis of the extraocular muscles type I (CFEOM1)...
- Onset of ophthalmoplegic migraine with abducens palsy at middle age?Wim I M Verhagen
Department of Neurology, Canisius Wilhelmina Hospital, 6500 GS Nijmegen, The Netherlands
Headache 43:798-800. 2003
- MRI findings in pediatric ophthalmoplegic migraine: a case report and literature reviewDiana X Bharucha
Drexel University College of Medicine, Philadelphia, Pennsylvania, USA
Pediatr Neurol 37:59-63. 2007..recognized as a cranial neuralgia) is a form of migraine characterized by recurrent episodes of headache with ophthalmoplegia related to paresis of cranial nerves III, IV, or VI, with onset typically in childhood...
- Mutation analysis of the KIF21A gene in an Indian family with CFEOM1: implication of CpG methylation for most frequent mutationsMahmood Ali
Department of Molecular Reproduction, Development and Genetics, Indian Institute of Science, Bangalore, India
Ophthalmic Genet 25:247-55. 2004..To carry out the mutation analysis of the KIF21A gene in a four-generation Indian family affected with CFEOM1 and to find out the molecular basis of the most frequent mutations c.2860C>T and c.2861G>A in exon 21 of the KIF21A gene...
- Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21AJoseph L Demer
Jules Stein Eye Institute, Department of Ophthalmology, University of California, Los Angeles, CA 90095 7002, USA
Invest Ophthalmol Vis Sci 46:530-9. 2005....
- Ophthalmoplegic migraine with alternating unilateral and bilateral internal ophthalmoplegiaJeong Yoon Choi
Department of Neurology, Korea University College of Medicine, Ansan, Gyeonggi Do, Republic of Korea
Headache 47:726-8. 2007We describe a patient with ophthalmoplegic migraine and internal ophthalmoplegia with alternating unilateral involvement and bilateral involvement in whom brain MRI scan showed alternating gadolinium enhancement on the cisternal portion ..
- Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1Silvio Ferraris
Department of Pediatrics, University of Turin, Turin, Italy
Arch Neurol 65:125-31. 2008..To describe the clinical features, muscle pathological characteristics, and molecular studies of a patient with a mutation in the gene encoding the accessory subunit (p55) of polymerase gamma (POLG2) and a mutation in the OPA1 gene...
- Major review: the clinical spectrum of pediatric myasthenia gravis: blepharoptosis, ophthalmoplegia and strabismus. A report of 14 casesKathryn M B McCreery
Department of Ophthalmology, Baylor College of Medicine, Texas Children s Hospital, Houston, Texas 77030, USA
Binocul Vis Strabismus Q 17:181-6. 2002..The purpose of this study is to evaluate the clinical spectrum of this condition in children and to identify factors that may aid the clinician in its diagnosis and management...
- Galloping ophthalmoplegia and numb chin in Burkitt lymphomaJuan J Chan Lau
Department of Ophthalmology and Visual Sciences, University of Michigan Medical Center, Ann Arbor, Michigan, USA
J Neuroophthalmol 24:130-4. 2004A 57-year-old man developed complete bilateral ophthalmoplegia over a period of 10 days, together with bilateral facial pain and numbness of the chin. He had no other clinical manifestations...
- Transient ophthalmoplegia following envenomation by the scorpion Mesobuthus eupeusHamid Sadeghian
Department of Neurology, Shahid Beheshti University of Medical Sciences and Health Services, Tehran, Iran
Neurology 60:346-7. 2003
- Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutationsMichael D Weiss
Department of Neurology, University of Washington Medical Center, Box 356115, 1959 NE Pacific Street, Seattle, Washington 98195, USA
Muscle Nerve 41:882-5. 2010..cause a number of phenotypically heterogeneous mitochondrial diseases, most commonly progressive external ophthalmoplegia, and are characterized by the accumulation of multiple, large-scale deletions of mitochondrial DNA...
- Ophthalmoplegic migraine with unusual featuresW B Lee
Department of Ophthalmology, University of Kentucky, 800 Rose Street, Lexington, KY 40536, USA
Headache 39:670-3. 1999..In light of current case reports on ophthalmoplegic migraine, this is the first documented example with a permanent deficit...
- Mutation p.Arg954Trp of KIF21A causes congenital fibrosis of the extraocular muscles in a Chinese familyXian qin Zhang
Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China
Yi Chuan Xue Bao 33:685-91. 2006..Our results indicate that mutation p.Arg954Trp of the KIF21A is the genetic basis of the Chinese family with CFEOM1...
- Herpes zoster ophthalmicus, ophthalmoplegia, and traumaRandolph W Evans
Department of Ophthalmology, The University of Iowa Hospital and Clinics, Iowa City 52242, USA
Headache 44:286-8. 2004
- Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24F Y Li
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden
Neurology 53:1265-71. 1999..To map the gene responsible for autosomal dominant progressive external opthalmoplegia...
- Acute ophthalmoplegia with pupillary areflexia associated with anti-GQ1b antibodyY C Chan
Division of Neurology, Department of Medicine, National University Hospital, Singapore
J Clin Neurosci 11:658-60. 2004Raised anti-GQ1b antibody is associated with Miller Fisher syndrome, Guillain-Barre syndrome (GBS) with ophthalmoplegia, Bickerstaff's brain stem encephalitis, acute ophthalmoparesis without ataxia and ataxic GBS without opthalmoplegia...
- Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegiaRodney K Beals
Department of Orthopaedics and Rehabilitation, Oregon Health and Science University, Portland, Oregon, USA
Am J Med Genet A 131:67-70. 2004..All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality...
- Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 geneH Jungbluth
Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Campus, London, UK
Neurology 65:1930-5. 2005..External ophthalmoplegia is an additional finding in a subset of patients with MmD.
- Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: a syndrome caused by a missense mutation in OPA1Marielle Payne
Department of Ophthalmology and Visual Sciences, University of Utah Health Sciences Center, Salt Lake City, Utah, USA
Am J Ophthalmol 138:749-55. 2004To describe the clinical features of and identify the disease-causing mutation in a large Utah family segregating a dominantly inherited syndrome of optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia.
- Mutations in KIF21A are responsible for CFEOM1 worldwideElias I Traboulsi
Ophthalmic Genet 25:237-9. 2004
- Consequences of mutations in human DNA polymerase gammaMatthew J Longley
Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, P O Box 12233, Research Triangle Park, NC 27709, USA
Gene 354:125-31. 2005..in POLG have been found to be associated with autosomal recessive and dominant progressive external ophthalmoplegia (PEO), Alpers syndrome, sensory ataxia, neuropathy, dysarthria and ophthalmoparesis (SANDO), Parkinsonism, ..
- Internuclear ophthalmoplegia: unusual causes in 114 of 410 patientsJames R Keane
Department of Neurology, University of Southern California School of Medicine, Los Angeles, CA 90033, USA
Arch Neurol 62:714-7. 2005Internuclear ophthalmoplegia (INO) is a sign of exquisite localizing value, often due to either multiple sclerosis or infarction...
- CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3E J Doherty
Department of Ophthalmology, Atlantic Health Sciences Corporation, Saint John, New Brunswick, Canada
Invest Ophthalmol Vis Sci 40:1687-94. 1999..To define the clinical characteristics and determine the gene localization for a previously undescribed form of congenital fibrosis of the extraocular muscles (CFEOM), referred to as CFEOM type 3 (CFEOM3)...
- Rhino-orbital-cerebral mucormycosis with different cerebral involvements: infarct, hemorrhage, and ophthalmoplegiaZafer Koc
Department of Radiology, Baskent University Medical School, Adana, Turkey
Int J Neurosci 117:1677-90. 2007..Headache, blurred vision, fever, painful ophthalmoplegia, and cranial nerve involvement were among the clinical findings...
- Congenital muscular dystrophy with adducted thumbs, ptosis, external ophthalmoplegia, mental retardation and cerebellar hypoplasia: a novel form of CMDTh Voit
Department of Pediatrics and Pediatric Neurology, University Hospital Essen, Hufelandstrasse 55, D 45122, Essen, Germany
Neuromuscul Disord 12:623-30. 2002..In addition, both showed ptosis, external ophthalmoplegia, mild mental retardation, and mild cerebellar hypoplasia on MRI...
- Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian familyC P Venkatesh
Minto Eye Hospital, Bangalore, India
Mol Vis 8:294-7. 2002..To describe the clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles (CFEOM) in an Indian family...
- Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal gangliaM P Flaherty
Department of Ophthalmology, New Children's Hospital, Westmead, Sydney, Australia
Ophthalmology 108:1313-22. 2001..This suggests that neuroimaging should be considered in the initial diagnostic evaluation of these patients, particularly if there is developmental delay...
- ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegiaM Hirano
Neurology 57:2163-5. 2001
- Complete traumatic unilateral ophthalmoplegia with intact far vision and complete recovery after 2 months-case reportGiacomo De Benedetti
Struttura Complessa di Oculistica, Ospedale S M Goretti, Latina, Italy
Orbit 27:187-9. 2008
- Transient partial ophthalmoplegia and Horner's syndrome after intraoral local anesthesiaEbru Apaydin Dogan
Department of Neurology, Akdeniz University, Medical School, Antalya, Turkey
J Clin Neurosci 12:696-7. 2005..We present a 19-year old woman with transient diplopia, miosis, partial enophthalmia and lacrimation on the side of injection after intraoral anesthesia with prilocaine...
- X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27A L Christianson
Department of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, South Africa
J Med Genet 36:759-66. 1999..four affected males examined, all had mild craniofacial dysmorphology and three were noted to have bilateral ophthalmoplegia and truncal ataxia. Three of 10 obligate female carriers had mild mental retardation...
- Complete ophthalmoplegia after herpes zosterM Im
Department of Dermatology, College of Medicine, Chungnam National University, Daejeon, Korea
Clin Exp Dermatol 32:162-4. 2007..We report a case of complete ophthalmoplegia resulting from ophthalmic herpes zoster...
- Painful ophthalmoplegia from metastatic nonproducing parathyroid carcinoma: case study and review of the literatureMarijke Eurelings
Department of Neurology, University Medical Center, Utrecht, The Netherlands
Neuro Oncol 4:44-8. 2002..We treated our patient with a combination of radiotherapy and chemotherapy. Treatment was followed by an unexpectedly prolonged survival of 31 months after diagnosis of metastatic disease...
- Acute ophthalmoplegia (without ataxia) associated with anti-GQ1b antibodyS H Lee
Department of Neurology, College of Medicine, Chonnam National University, Korea
Neurology 71:426-9. 2008Anti-GQ1b antibody has been found in Miller Fisher syndrome (MFS), Guillain-Barré syndrome (GBS) with ophthalmoplegia, Bickerstaff brainstem encephalitis (BBE), and acute ophthalmoplegia without ataxia (AO)...
- Isolated unilateral post-traumatic internuclear ophthalmoplegiaJ W Chan
Division of Neurology, Department of Internal Medicine, University of Nevada, School of Medicine, Las Vegas, Nevada 8912, USA
J Neuroophthalmol 21:212-3. 2001A patient developed an isolated unilateral internuclear ophthalmoplegia (INO) after head trauma. An uncommon complication of closed head trauma, INO usually occurs bilaterally and is often associated with other neurologic deficits...
- The molecular basis of the congenital fibrosis syndromesElizabeth C Engle
Children s Hospital and Harvard Medical School, Boston, MA 02115, USA
Strabismus 10:125-8. 2002....
- Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13S M Wang
Division of Genetics, Children s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Hum Genet 63:517-25. 1998..Each is marked by a specific form of restrictive paralytic ophthalmoplegia with or without ptosis...
- Central retinal artery occlusion and ophthalmoplegia following spinal surgeryM J Halfon
Br J Ophthalmol 88:1350-2. 2004
- Acute ophthalmoparesis (without ataxia) associated with anti-GQ1b IgG antibody: clinical featuresN Yuki
Department of Neurology, Dokkyo University School of Medicine, Tochigi, Japan
Ophthalmology 108:196-200. 2001..AO can be considered a mild form of Miller Fisher syndrome or a regional variant of Guillain-BarrÃ© syndrome...
- Teaching Video NeuroImage: near complete ophthalmoplegia in GQ1b antibody-positive Miller Fisher: video and MRI correlationDavid T Hsieh
Department of Neurology, Children s National Medical Center, Washington, DC 20010, USA
Neurology 71:e31. 2008
- Kinetics of DNA polymerase gamma upon mutation and nucleoside analog exposureCHRISTAL DYANE SOHL; Fiscal Year: 2013..by violent seizures and liver disease and causes death in early childhod, and progressive external ophthalmoplegia, an adult onset disorder which causes ptosis and ataxia and is usualy non-fatal...
- Modification of AdenoAssociated Virus to deliver DNA directly to MitochondriaJohn Guy; Fiscal Year: 2011..We will share the vector with other groups whose goal it is to treat these disorders. ..
- Molecular Pathogenesis and Treatment of MNGIEMichio Hirano; Fiscal Year: 2013..The disease typically begins in childhood or early adulthood causes ptosis, ophthalmoplegia, severe gastrointestinal dysmotility leading to cachexia, peripheral neuropathy, leukoencephalopathy, and ..
- Eye Movements: The Motor System that Sees the WorldPaul J May; Fiscal Year: 2011..PUBLIC HEALTH RELEVANCE: Disorders of eye movement systems include strabismus, nystagmus and internuclear ophthalmoplegia. Moreover, oculomotor responses are disturbed in many motor control diseases (Parkinson's, torticollis), ..
- Aging-related mitochondrial degeneration and degenerative diseasesXin Jie Chen; Fiscal Year: 2013..model for the adult/late-onset neuromuscular degenerative disease autosomal dominant Progressive External Ophthalmoplegia (adPEO), caused by gain-of-function mutations in the adenine nucleotide translocase (Ant)...
- MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENSKeshav Singh; Fiscal Year: 2003..mitochondrial genes cause mitochondrial myopathy, fatal infantile cardiomyopathy minus, progressive external ophthalmoplegia and other multisystem disorders...
- ROLE OF PEPTIDES IN OCULOMOTOR NEUROTRANSMISSIONVINCENT CHIAPPINELLI; Fiscal Year: 1992..These include some defects in accommodation, internal ophthalmoplegia and tonic pupil...
- MITOCHONDRIAL DNA DEPLETION IN HUMAN DISEASETuan Vu; Fiscal Year: 2000..to coexist with fibers harboring deleted mtDNA in diseases such as autosomal dominant progressive external ophthalmoplegia with multiple deletions and inclusion-body myositis...
- CLINICAL STUDIES OF MITOCHONDRIAL DISEASEDONALD JOHNS; Fiscal Year: 2004..We identified a novel mitochondrial disease, Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoplegia (SANDO), which is associated with multiple mitochondrial DNA (mtDNA) deletions...
- Molecular Analysis of the Mitochondrial ADP/ATP Carrier Protein ComplexesRosemary Stuart; Fiscal Year: 2009..tissue, the hANT1 protein, is the underlying cause of the disease autosomal-dominant progressive external ophthalmoplegia (adPEO)...
- MAMMALIAN MITOCHONDRIAL DNA DOUBLE-STRAND-BREAK-REPAIRColin Campbell; Fiscal Year: 2003..In addition, a human genetic disease (autosomal dominant progressive external ophthalmoplegia, adPEO) has recently been described in which mtDNA instability can lead to premature death...
- THREE DIMENSIONAL ORGANIZATION OF THE OCULOMOTOR SYSTEMDora Angelaki; Fiscal Year: 1999..Trauma to the system, or disease states such as gaze palsies or ophthalmoplegia can produce oculomotor deficits that are disorienting and sometimes difficult to resolve clinically...
- Extraocular muscle aging: Functional and genomic changesFrancisco Andrade; Fiscal Year: 2004..targeted by conditions that have been linked to oxidative stress like chronic progressive external ophthalmoplegia and related disorders...
- 2007 Oculomotor System Biology Gordon Research ConferenceNeeraj Gandhi; Fiscal Year: 2007..Disorders of eye movement systems include strabismus, nystagmus and internuclear ophthalmoplegia. Oculomotor responses are disturbed in motor control diseases (Parkinson's, torticollis), sensation ..
- MITOCHONDRIAL DNA MUTATIONS IN HUMAN CARDIOMYOPATHIESMichio Hirano; Fiscal Year: 2000..Second, he will determine the molecular genetic defect in the Autosomal Recessive Cardiomyopathy Ophthalmoplegia (ARCO) syndrome associated with multiple mtDNA deletions...
- Pathogenesis of a Novel Limb-Girdle Muscular DystrophyMichio Hirano; Fiscal Year: 2003..For the patients, achieving the proposed goals will allow more accurate prenatal diagnosis, genetic counseling, and perhaps contribute to more rational therapies in the future. ..
- Genetics of Familial Episodic AtaxiaJoanna C Jen; Fiscal Year: 2010..Insights gained from the study will lead to improved diagnosis and treatment of familial episodic ataxia and the more common episodic vertigo syndromes. ..
- Pathobiology of Retinal Vasculopathy with Cerebal Leukodystrophy (RVCL)Joanna C Jen; Fiscal Year: 2010..abstract_text> ..
- SSB PROTEINS AS ORGANIZERS OF DNA PRECURSOR BIOSYNTHESISChristopher Mathews; Fiscal Year: 2001..Characterization of the phosphorylation of SSB will explore the role of this modification on protein-protein and protein-DNA associations. ..
- Acquired mtDNA depletion and nucleoside reverse transciptase inhibitorsWilliam Lewis; Fiscal Year: 2010..Experiments offer insights into improving therapy with antiretrovirals used in AIDS. ..
- THE CARNITINE TRANSPORTER IN HUMAN DISEASENicola Longo; Fiscal Year: 2010....
- CARDIOMYOPATHY IN AIDSWilliam Lewis; Fiscal Year: 2009..HYPOTHESIS 4: mtDNA depletion (from any above) causes or results from oxidative stress. Antioxidants ameliorate oxidative stress from NRTIs by decreasing oxidation of mtDNA. ..
- CARDIAC DYSFUNCTION, AIDS AND COCAINEWilliam Lewis; Fiscal Year: 2003..Immuno-LM and immuno-TEM identify cellular and subcellular alterations. ..
- THE GENETIC & FUNCTIONAL ANATOMICAL BASIS OF HGPPSJoanna Jen; Fiscal Year: 2009..Understanding the anatomical and molecular basis of HGPPS will provide insight into the genetically programmed neurodevelopment of the conjugate horizontal gaze center and other cranial nuclei in the brainstem. ..
- Anaplerotic therapy in Propionic AcidemiaNicola Longo; Fiscal Year: 2008..This approach, if effective, could be extended to a number of other diseases, including other organic acidemias and mitochondrial disorders. [unreadable] [unreadable] [unreadable]..
- Immunity to brain Ma proteins: A remote effect of cancerJosep Dalmau; Fiscal Year: 2007..abstract_text> ..
- Prednisone Ocular Myasthenia Gravis Trial Planning GrantMark Kupersmith; Fiscal Year: 2004....
- AIDS and Alcohol and CardiomyopathyWilliam Lewis; Fiscal Year: 2005..Myofibrillar, nuclear and mitochondrial volumes are analyzed quantitatively (by transmission electron microscopy [TEM]). Volume fractions of extracellular matrix and of myocytes are determined morphometrically (light and TEM). ..
- Hepatic mitochondrial oxidative stress, AIDS and alcoholWilliam Lewis; Fiscal Year: 2005..Biochemical, molecular and pathological changes (above) are ameliorated. This serves as a "proof of principle". ..
- International Conference on Episodic Ataxia SyndromesJoanna Jen; Fiscal Year: 2005..abstract_text> ..
- Nucleoside analogs, mitochondria and AIDS cardiomyopathyWilliam Lewis; Fiscal Year: 2006..AIM 2: to define CM from HAART microscopically and ultrastructurally using morphometric methods. AIM 3: to define cardiac performance in CM from HAART echocardiographically and using Langendorff preparations. ..
- Perceptual encoding and imagery in prosopagnosiaJason Barton; Fiscal Year: 2008..From our prior work, we hypothesize that covert or unconscious recognition is the residual product of a partially damaged face network in the brain. We propose a functional imaging experiment to test this hypothesis. ..
- The Role of Mitochondrial DNA Alterations in CancerLee Jun Wong; Fiscal Year: 2008..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..
- Prevention of Neuronal Damage in Optic NeuritisKENNETH SHINDLER; Fiscal Year: 2008..This proposal will serve as an ideal platform for the principal investigator to begin a career aimed at understanding mechanisms of optic nerve damage and its correlation to clinical findings. [unreadable] [unreadable]..
- Brain Atrophy/Diffusion Tensor Study/Multiple SclerosisRobert Fox; Fiscal Year: 2008..Furthermore, these studies should help develop improved methods for evaluating new therapeutic strategies for neuroprotection and neuroregeneration. ..
- Paraneoplastic Disorders of CNS: Autoantigen ProfilingJosep Dalmau; Fiscal Year: 2007..unreadable] [unreadable]..
- MUTATIONS IN CALCIUM CHANNELS CAUSING VERTIGO AND ATAXIAJoanna Jen; Fiscal Year: 2002..The further relevance of this work to the more common basilar migraine and Meniere's syndrome is emphasized by the overlapping symptoms of vertigo and ataxia in the group of patients that we propose to study. ..