Supranuclear Vertical Gaze Palsy

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Identifier 165-9
Title Supranuclear Vertical Gaze Palsy
Ocular Movements Global Supranuclear Vertical Gaze Palsy; Convergence absent; Prominent Stare; Slow Hypometric Horizontal Saccades; Slow Horizontal Pursuit; Vertical Oculocephalic Reflex Normal; Positive Glabella Tap
Creator Shirley H. Wray, M.D., Ph.D., FRCP, Professor of Neurology Harvard Medical School, Director, Unit for Neurovisual Disorders, Massachusetts General Hospital
Contributor Primary Shirley H. Wray, MD, PhD, FRCP, Professor of Neurology, Harvard Medical School; Director, Unit for Neurovisual Disorders, Massachusetts General Hospital
Subject Global Supranuclear Vertical Gaze Palsy; Convergence absent; Prominent Stare; Slow Hypometric Horizontal Saccades; Slow Horizontal Pursuit; Vertical Oculocephalic Reflex Normal; Positive Glabella Tap; Progressive Supranuclear Palsy; Steele Richardson Olszewski Syndrome; Supranuclear Paralysis of Up and Downgaze Degeneration
Supplementary Materials PowerPoint Presentations: Progressive Supranuclear Palsy: http://library.med.utah.edu/NOVEL/Wray/PPT/Progressive_Supranuclear_Palsy.ppt Shirley H. Wray, M.D., Ph.D., FRCP, Harvard Medical School Tauopathies: A contemporary way to consider a set of neurodegenerative diseases based on their molecular signature: http://library.med.utah.edu/NOVEL/Wray/PPT/Tauopathies_guest_lecture.ppt John Growdon, M.D, Massachusetts General Hospital
Presenting Symptom Difficulty reading
History The patient is a 60 year old woman who was given a diagnosis of Progressive supranuclear palsy six months before she was referred by the Movement Disorders Clinic for evaluation of difficulty reading. Family History: Negative for neurodegenerative disease. Neuro-ophthalmological examination: Supranuclear vertical gaze palsy (saccades and pursuit) Convergence absent Prominent stare Slow hypometric horizontal saccades Slow horizontal pursuit Deviation of the eyes up under closed lids (Bell's phenomenon) Vertical oculocephalic reflexes normal Positive Glabella tap Diagnosis: Progressive supranuclear palsy (PSP) Global supranuclear vertical gaze palsy Paresis of downgaze prevented the patient from reading in her usual position with her book or paper on her knee. She was helped by prescribing separate reading glasses corrected for reading with the eyes in primary position. Previously, she had had moon bifocals which are particularly unsatisfactory for older people as convergence fails. (View ID 932-3 and ID 939-3).
Clinical This patient with supranuclear vertical gaze palsy has the following: A supranuclear vertical gaze palsy (saccades and pursuit) Convergence absent A prominent stare Slow hypometric horizontal saccades Slow horizontal pursuit Deviation of the eyes up under closed lids (Bell's phenomenon) Vertical oculocephalic reflexes normal Positive Glabella tap
Neuroimaging No neuroimaging studies are available in this patient.
Anatomy Supranuclear paralysis of vertical gaze localizes to the mesencephalic reticular formation and the rostral interstitial nucleus of the medial longitudinal fasciculus (riMLF). The riMLF is a wing-shaped structure that lies dorsomedial to the red nucleus and rostral to the interstitial nucleus of Cajal. The riMLF contains burst neurons for vertical and torsional saccades. The riMLF projects predominantly to the ipsilateral oculomotor (third nerve) and trochlear (fourth nerve) nuclei.
Pathology In an autopsy case of PSP, a pale locus ceruleus and substantia nigra are two typical gross features on inspection of the brainstem. Neuronal loss, granulovacuolar degeneration and fibrillary gliosis are present in areas of neuronal change. There is widespread neuronal and glial tau accumulation in the cortex, basal ganglia, in periaqueductal gray matter, subthalamic nucleus, red nucleus, substantia nigra, pedunculopontine nucleus, superior colliculus, and in the dentate nucleus of the cerebellum. Microscopically, globose neurofibrillary tangles are observed. The neuronal cytoplasmic inclusions are strongly immunoreactive for tau. Tufted astrocytes are a specific finding in PSP. They are often binucleate and have long tau reactive processes. The intracellular aggregation of tau in PSP may be sufficient to cause nerve cell degeneration.
Etiology PSP is a "tauopathy". Studies suggest that it is a recessive disorder in linkage disequilibrium with the tau gene. Rare familial forms of PSP exist including an autosomal dominant transmission with incomplete penetrance. The relationship to the tau gene further suggests a relationship to frontotemporal dementia/Pick's Disease (FTDP) and some families carrying the FTDP-17 mutation (chromosome 17) have affected members with PSP-like phenotypes.
Disease/Diagnosis Progressive Supranuclear Palsy - tauopathy
Treatment There is no cure for PSP. Once the disease has begun, its course is relentlessly progressive.
References 1. Buttner-Ennever JA, Horn AK. Pathways from cell groups of the paramedian tracts to the floccular region. Ann N Y Acad Sci. 1996 Jun 19;781:532-540. http://www.ncbi.nlm.nih.gov/pubmed/8694442 2. Daniel SE, de Bruin VM, Lees AJ. The clinical and pathological spectrum of Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy): a reappraisal. Brain 1995, Jun;118 ( Pt 3):759-770. http://www.ncbi.nlm.nih.gov/pubmed/7600092 3. Friedman DI, Jankovic J, McCrary JA 3rd. Neuro-ophthalmic findings in progressive supranuclear palsy. J Clin Neuroophthalmol. 1992 Jun;12(2):104-109. http://www.ncbi.nlm.nih.gov/pubmed/1629370 4. Growdon JH, Rossor MN. The Dementias. Blue Books of Practical Neurology. Butterworth-Heinemann 1998; Vol 19. 5. Leigh RJ, Zee DS. Diagnosis of Central Disorders of Ocular Motility. Chp 12:598-718 In: The Neurology of Eye Movements, Fourth Edition. Oxford University Press, NY. 2006. 6. Mendez MG, Cummings JL. Dementia A Clinical Approach. Third Edition. Butterworth Heinemann 2003. 7. Richardson JC, Steele J, Olszewski J. Supranuclear ophthalmoplegia, pseudobulbar palsy, nuchal dystonia and dementia. a clinical report on eight cases of heterogenous system degeneration. Trans Am Neurol Assoc. 1963;88:25-29. http://www.ncbi.nlm.nih.gov/pubmed/14272249 8. Stanford PM, Halliday GM, Brooks WS, Kwok JBJ, Storey CE, Creasey H, Morris JGL, Fulham MJ, Schofield PR. Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations. Brain 2000;123(Pt 5):880-893. http://www.ncbi.nlm.nih.gov/pubmed/10775534 9. Sir Charles Bell (http://www.whonamedit.com/doctor.cfm/2103.html)
Relation is Part of 166-18, 168-3, 924-2, 932-3, 936-5, 939-3
Contributor Secondary Ray Balhorn, Video Compressionist
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 1977
Type Image/MovingImage
Format video/mp4
Source 3/4" Umatic master videotape
Rights Management Copyright 2002. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E, SLC, UT 84112-5890
Collection Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu
Language eng
ARK ark:/87278/s65x56hg
Setname ehsl_novel_shw
Date Created 2008-09-23
Date Modified 2017-02-23
ID 188637
Reference URL https://collections.lib.utah.edu/ark:/87278/s65x56hg
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