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]
Vertical supranuclear ophthalmoplegia has also been associated with metabolic disorders, such as Niemann-Pick disease, Wilson’s disease, kernicterus, and barbiturate overdose[neurocirugia.com]
Symptoms: A loss of vertical gaze. Red, irritated, and painful eye. Fever. General ill-feeling. Increased tearing (possible).[medigoo.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]
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]
The main clinical features of the most common types are supranuclear ophthalmoplegia, pseudobulbar palsy, prominent neck dystonia, Parkinsonism, and behavioural, cognitive[patient.info]
[…] in seven of his patients, including one close friend, during the second half of the 1950s.3 He observed and described an unusual constellation of signs which included "a vertical[movementdisorders.org]
Nothnagel's 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]
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]
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]
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]
Pseudobulbar Palsy
J.C....Olszewski J. 1964 49 SUPRANUCLEAR OPHTHALMOPLEGIA, PSEUDOBULBAR PALSY, NUCHAL DYSTONIA AND DEMENTIA.[malacards.org]
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]
46 Bacterial endocarditis presenting as pseudobulbar palsy. ( 6053619 ) Shafar J. 1967 47 SUPRANUCLEAR (PSEUDOBULBAR) PALSY. ( 14332003 ) ARING C.D. 1965 48 PROGRESSIVE SUPRANUCLEAR[malacards.org]