Possible Causes for vertical supranuclear ophthalmoplegia Niemann-Pick Disease Type C At age 45, he had mild dementia and dysarthria, vertical supranuclear ophthalmoplegia, axonal sensorimotor polyneuropathy, and cerebellar ataxia. [ncbi.nlm.nih.gov] He was subsequently diagnosed with NPC as the emerging features of dementia, ataxia, dysarthria, and vertical supranuclear ophthalmoplegia were recognized. [ncbi.nlm.nih.gov] supranuclear ophthalmoplegia and progressive mental deterioration as the dominant features. [ncbi.nlm.nih.gov] Parinaud Syndrome Vertical supranuclear ophthalmoplegia has also been associated with metabolic disorders, such as Niemann-Pick disease, Wilson's disease, kernicterus, and barbiturate overdose [medigoo.com] Symptoms: A loss of vertical gaze. Red, irritated, and painful eye. Fever. General ill-feeling. Increased tearing (possible). [medigoo.com] Classic Progressive Supranuclear Palsy Syndrome supranuclear ophthalmoplegia, pseudobulbar palsy, dysarthria, dystonic rigidity-in-extension of the neck, and mild dementia."3 By the early 1960s six of these patients had [movementdisorders.org] ICD10 - G23.1 Disease Progressive supranuclear palsy (PSP) or Steele-Richardson-Olszewski syndrome is characterized by a progressive supranuclear ophthalmoplegia typically [eyewiki.aao.org] […] saccades and square wave jerks on ocular examination (early signs) Supranuclear ophthalmoplegia (classic gaze palsy in PSP) Downgaze typically involved before upgaze Improvement [emedicine.medscape.com] Nothnagel Syndrome Vertical supranuclear ophthalmoplegia has also been associated with metabolic disorders, such as Niemann-Pick disease, Wilson's disease, kernicterus, and barbiturate overdose [en.wikipedia.org] […] palsies(1) Internuclear ophthalmoplegia One and half syndrome Horizontal gaze palsy Monocular elevation deficit Vertical gaze palsy Skew deviation Ocular tilt reaction(2) [medicine.uiowa.edu] Optokinetic nystagmus(2) 3.Saccades(2) 4.Pursuit(2) 5.Convergence(2) 6.Divergence(2) 7.Specific ocular motor syndromes: Cranial nerve palsies(1) Third, fourth and sixth Supranuclear [medicine.uiowa.edu] Pick Disease of The Brain The most typical phenotype is characterised by hepatosplenomegaly, vertical supranuclear ophthalmoplegia, progressive ataxia, dystonia, and dementia and manifests in late [jnnp.bmj.com] supranuclear ophthalmoplegia, cognitive impairment, and psychotic illness. 2, 3 Because of the rarity of adult patients, few studies have examined brain changes in the disease [ajnr.org] Vertical supranuclear ophthalmoplegia, which was absent in our patient, is an important sign in infantile and juvenile Niemann-Pick disease type C, but it is often missing [jnnp.bmj.com] Sea-blue histiocytosis Abstract A case of partial sphingomylinase deficiency with supranuclear vertical ophthalmoplegia, perceptive hearing loss and renal failure is reported. [ncbi.nlm.nih.gov] supranuclear ophthalmoplegia is 75%. [10] The prevalence in India is not known but in western countries it varies from one in 5,00,000 to one in 7,50,000. [neurologyindia.com] The incidence of dysphagia in adult onset NPC is about 37%, psychiatric disorders is 45%, movement disorders is 58%, cognitive troubles is 61%, dysarthria is 63%, and vertical [neurologyindia.com] Generalized Clonic or Tonic-Clonic Seizures […] gaze palsy Vertical supranuclear gaze palsy Visceromegaly Cataplexy Congenital thrombocytopenia Trismus Supranuclear ophthalmoplegia Fetal ascites Sea-blue histiocytosis [mendelian.co] supranuclear ophthalmoplegia Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Generalized hypotonia SOURCES: [mendelian.co] […] disease, subacute juvenile form, niemann-pick disease, chronic neuronopathic form, niemann-pick disease without sphingomyelinase deficiency, neurovisceral storage disease with vertical [mendelian.co] Mental Disorder supranuclear ophthalmoplegia was discovered. [dx.doi.org] His sister developed schizophrenia-like symptoms a decade later, but diagnosis was made rapidly when she was examined for vertical supranuclear ophthalmoplegia based on the [dx.doi.org] […] presented at 16 years old with visual and auditory hallucinations, and later developed dysarthria and ataxia leading to a definitive diagnosis at the age of 24 years when vertical [dx.doi.org] Psychosis supranuclear ophthalmoplegia was discovered. [doi.org] His sister developed schizophrenia-like symptoms a decade later, but diagnosis was made rapidly when she was examined for vertical supranuclear ophthalmoplegia based on the [doi.org] […] presented at 16 years old with visual and auditory hallucinations, and later developed dysarthria and ataxia leading to a definitive diagnosis at the age of 24 years when vertical [doi.org] Progressive Supranuclear Palsy supranuclear ophthalmoplegia, pseudobulbar palsy, dysarthria, dystonic rigidity-in-extension of the neck, and mild dementia."3 By the early 1960s six of these patients had [movementdisorders.org] Introduction In this report we are describing a progressive brain disease featured by supranuclear ophthalmoplegia affecting chiefly vertical gaze, pseudobulbar palsy, dysarthria [doi.org] […] saccades and square wave jerks on ocular examination (early signs) Supranuclear ophthalmoplegia (classic gaze palsy in PSP) Downgaze typically involved before upgaze Improvement [emedicine.medscape.com] X-Linked Parkinsonism with Spasticity […] palsy (Steele-Richardson-Olszewski syndrome) Parkinson plus syndrome characterized by predominantly axial rigidity, akinesia, supranuclear ophthalmoplegia (impairment of [strokecenter.org] […] voluntary vertical gaze—downward more than upward), and pseudobulbar palsy proprioception joint position sense proptosis (exophthalmos) abnormal protrusion of the eyeball [strokecenter.org] […] symptoms progressive multifocal leukoencephalopathy (PML) fatal demyelinating CNS disease of immunocompromised patients caused by reactivation of the JC papovavirus progressive supranuclear [strokecenter.org] Spastic Quadriplegic Cerebral Palsy Type 2 supranuclear ophthalmoplegia, dysarthria, and dystonia. [adc.bmj.com] Ultimately, there is complete loss of vertical eye movements involving both upward and downward gaze, which, occurring on a background of progressive neurological deterioration [adc.bmj.com] […] disease type C is an autosomal recessive condition which presents neurologically between the ages of 2 and 12 years, with tremor, clumsiness, ataxia, poor concentration, vertical [adc.bmj.com] Neurologic Manifestation of Whipple Disease Present in 50% of patients Myoclonus - Present in 20% of patients Eye findings in CNS-WD are as follows: Supranuclear ophthalmoplegia Both horizontal and vertical SNO are [emedicine.medscape.com] Nearly all cases of ophthalmoplegia are supranuclear, usually in the form of vertical volitional ophthalmoplegia with preserved involuntary extraocular movements in response [oncohemakey.com] Almost always the ophthalmoplegia is of supranuclear gaze palsy type with involvement of vertical rather than horizontal movement. Pure oculomotor palsies are rare. [jnnp.bmj.com] Paresis […] palsy (Steele-Richardson-Olszewski syndrome) Parkinson plus syndrome characterized by predominantly axial rigidity, akinesia, supranuclear ophthalmoplegia (impairment of [strokecenter.org] […] voluntary vertical gaze—downward more than upward), and pseudobulbar palsy proprioception joint position sense proptosis (exophthalmos) abnormal protrusion of the eyeball [strokecenter.org] […] symptoms progressive multifocal leukoencephalopathy (PML) fatal demyelinating CNS disease of immunocompromised patients caused by reactivation of the JC papovavirus progressive supranuclear [strokecenter.org] Pseudobulbar Palsy J.C....Olszewski J. 1964 49 SUPRANUCLEAR OPHTHALMOPLEGIA, PSEUDOBULBAR PALSY, NUCHAL DYSTONIA AND DEMENTIA. [malacards.org] […] saccades and square wave jerks on ocular examination (early signs) Supranuclear ophthalmoplegia (classic gaze palsy in PSP) Downgaze typically involved before upgaze Improvement [emedicine.medscape.com] A HETEROGENEOUS DEGENERATION INVOLVING THE BRAIN STEM, BASAL GANGLIA AND CEREBELLUM WITH VERTICAL GAZE AND PSEUDOBULBAR PALSY, NUCHAL DYSTONIA AND DEMENTIA. ( 14107684 ) Steele [malacards.org] Cerebral Palsy with Spastic Diplegia supranuclear ophthalmoplegia, dysarthria, and dystonia. [adc.bmj.com] Ultimately, there is complete loss of vertical eye movements involving both upward and downward gaze, which, occurring on a background of progressive neurological deterioration [adc.bmj.com] […] disease type C is an autosomal recessive condition which presents neurologically between the ages of 2 and 12 years, with tremor, clumsiness, ataxia, poor concentration, vertical [adc.bmj.com] Perinatal Lethal Gaucher Disease supranuclear ophthalmoplegia Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Generalized hypotonia SOURCES: [mendelian.co] […] disease, subacute juvenile form, niemann-pick disease, chronic neuronopathic form, niemann-pick disease without sphingomyelinase deficiency, neurovisceral storage disease with vertical [mendelian.co] Binswanger Disease […] palsy (Steele-Richardson-Olszewski syndrome) Parkinson plus syndrome characterized by predominantly axial rigidity, akinesia, supranuclear ophthalmoplegia ( impairment of [strokecenter.org] […] voluntary vertical gaze—downward more than upward), and pseudobulbar palsy proprioception joint position sense proptosis (exophthalmos) abnormal protrusion of the eyeball [strokecenter.org] […] symptoms progressive multifocal leukoencephalopathy (PML) fatal demyelinating CNS disease of immunocompromised patients caused by reactivation of the JC papovavirus progressive supranuclear [strokecenter.org] Amyotrophic Lateral Sclerosis PubMed Google Scholar Kobayashi M, Ikeda K, Kinoshita M, Iwasaki Y: Amyotrophic lateral sclerosis with supranuclear ophthalmoplegia and rigidity. [doi.org] PubMed Central PubMed Google Scholar Okuda B, Yamamoto T, Yamasaki M, Maya K, Imai T: Motor neuron disease with slow eye movements and vertical gaze palsy. [doi.org] Niemann-Pick Disease supranuclear ophthalmoplegia, maladie de Neville, DAF syndrome, adult dystonic lipidosis, adult neurovisceral lipidosis, giant cell hepatitis, and lactosyl ceramidosis [medlink.com] […] in the 1960s and 1970s under numerous names: juvenile Niemann-Pick disease, juvenile dystonic lipidosis, atypical cerebral lipidosis, neurovisceral storage disease with vertical [medlink.com] Thoracomelic Dysplasia SUPRANUCLEAR OPHTHALMOPLEGIA 257100 : NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA 257300 : NONDISJUNCTION 257350 : NUCHAL BLEB, FAMILIAL 257400 : NYSTAGMUS, CONGENITAL [www5.geometry.net] NEUROPATHY, HEREDITARY SENSORY, ATYPICAL 256870 : NEUROPATHY, PAINFUL 257000 : NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES 257050 : NEUROVISCERAL STORAGE DISEASE WITH VERTICAL [www5.geometry.net] Occipital Lobe Tumor […] palsy (Steele-Richardson-Olszewski syndrome) Parkinson plus syndrome characterized by predominantly axial rigidity, akinesia, supranuclear ophthalmoplegia ( impairment of [strokecenter.org] […] voluntary vertical gaze—downward more than upward), and pseudobulbar palsy proprioception joint position sense proptosis (exophthalmos) abnormal protrusion of the eyeball [strokecenter.org] […] symptoms progressive multifocal leukoencephalopathy (PML) fatal demyelinating CNS disease of immunocompromised patients caused by reactivation of the JC papovavirus progressive supranuclear [strokecenter.org] Cerebral Arteriosclerosis […] palsy (Steele-Richardson-Olszewski syndrome) Parkinson plus syndrome characterized by predominantly axial rigidity, akinesia, supranuclear ophthalmoplegia ( impairment of [strokecenter.org] […] voluntary vertical gaze—downward more than upward), and pseudobulbar palsy proprioception joint position sense proptosis (exophthalmos) abnormal protrusion of the eyeball [strokecenter.org] […] symptoms progressive multifocal leukoencephalopathy (PML) fatal demyelinating CNS disease of immunocompromised patients caused by reactivation of the JC papovavirus progressive supranuclear [strokecenter.org] Juvenile Paralysis Agitans of Hunt The gaze abnormalities at first involve voluntary, vertical, saccadic gaze, sparing reflex eye movements; the name of the disease refers to this supranuclear ocular motility [neupsykey.com] The disordered motility may progress to complete ophthalmoplegia terminally. [neupsykey.com] Frontotemporal Dementia Deficits in vertical gaze, postural instability, ophthalmoplegia and disinhibitory symptoms suggest an association of FTD with supranuclear palsy, whereas apraxia, rigidity [symptoma.com] Overlap syndromes - Some authors have confirmed overlapping of FTD and two clinical syndromes - corticobasal syndrome (CBD) and supranuclear palsy (in addition to ALS). [symptoma.com] Familial Congenital Palsy of Trochlear Nerve Bilateral Internuclear Ophthalmoplegia Fisher's One and a Half Syndrome Pseudo-Internuclear Ophthalmoplegia Section 5: Supranuclear Vertical Upgaze Infarct Hemorrhage Degeneration [repository.countway.harvard.edu] Syndrome Section 3: Nuclear Third Nerve - Oculomotor Nucleus Sixth Nerve - Abducens Nucleus Congenital - Duane's Syndrome Section 4: Internuclear Unilateral Internuclear Ophthalmoplegia [repository.countway.harvard.edu] Niemann-Pick Disease Type C1 supranuclear ophthalmoplegia, Niemann-Pick disease type D, Niemann-Pick disease Nova Scotian type Niemann-Pick disease (NPD) is a lipid storage disorder that results from [centogene.com] From compilation of the literature [ 35 ] the most common features are: cerebellar ataxia (76%), vertical supranuclear ophthalmoplegia (75%), dysarthria (63%), cognitive troubles [ncbi.nlm.nih.gov] […] disease, subacute juvenile form, Niemann-Pick disease, chronic neuronopathic form, Niemann-Pick disease without sphingomyelinase deficiency, Neurovisceral storage disease with vertical [centogene.com] Disorder of Amino Acid Metabolism Specific neurological signs such as vertical supranuclear ophthalmoplegia or a cherry red spot may suggest a particular metabolic disease. [jnnp.bmj.com] Cortical Blindness […] palsy (Steele-Richardson-Olszewski syndrome) Parkinson plus syndrome characterized by predominantly axial rigidity, akinesia, supranuclear ophthalmoplegia ( impairment of [strokecenter.org] […] voluntary vertical gaze—downward more than upward), and pseudobulbar palsy proprioception joint position sense proptosis (exophthalmos) abnormal protrusion of the eyeball [strokecenter.org] […] symptoms progressive multifocal leukoencephalopathy (PML) fatal demyelinating CNS disease of immunocompromised patients caused by reactivation of the JC papovavirus progressive supranuclear [strokecenter.org] Parana Hard-Skin Syndrome SUPRANUCLEAR OPHTHALMOPLEGIA 257100 : NEUTROPENIA, LETHAL CONGENITAL, WITH EOSINOPHILIA 257300 : NONDISJUNCTION 257350 : NUCHAL BLEB, FAMILIAL 257400 : NYSTAGMUS, CONGENITAL [www5.geometry.net] NEUROPATHY, HEREDITARY SENSORY, ATYPICAL 256870 : NEUROPATHY, PAINFUL 257000 : NEUROVISCERAL STORAGE DISEASE WITH CURVILINEAR BODIES 257050 : NEUROVISCERAL STORAGE DISEASE WITH VERTICAL [www5.geometry.net]
