Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Olivopontocerebellar atrophy is a hereditary disorder that has variable clinical manifestations. Five types have been described, as well as a sixth that contains sporadic cases. This report describes a family with three affected members who demonstrate a composite of types III and V. Their features include progressive spasticity, ataxia, dementia, visual loss with retinal pigmentation, dysarthria, ophthalmoplegia, and chorea. This family might represent an additional category of the disease. In the two family members who developed chorea, baclofen resulted in marked improvement with abolition of the choreiform movements. Response has been sustained for several years in the mother and for eight months in the daughter. Neither has experienced any return of chorea while receiving treatment. When attempts were made to discontinue baclofen, choreiform movements returned promptly and with their original severity. Baclofen, a gamma-aminobutyric acid analogue, may be useful in the treatment of other forms of chorea as well.
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PMID:Olivopontocerebellar atrophy with dementia, blindness, and chorea. Response to baclofen. 402 7

Progressive supranuclear palsy (PSP) is a degenerative condition of unknown aetiology that produces an akinetic-rigid form of parkinsonism characterised by early falls and abnormalities of extraocular movements. Mean age of onset is approximately 63 years, and mean survival from symptom onset is 9 years. Men are much more frequently affected than women. The classic clinical finding is supranuclear ophthalmoplegia, which may not present until late in the illness, if at all. The clinical diagnosis of PSP can be difficult to make, as the sites of pathology are heterogeneous. Structural and functional neuroimaging studies, although not specific for PSP, may be of some assistance in making the diagnosis. The definitive diagnosis of PSP requires the presence of both clinical and neuropathological evidence. Multiple anatomical sites are affected in PSP. The most consistently involved are the subthalamic nucleus, globus pallidus interna and externa, pontine nuclei, periaqueductal grey matter and the substantia nigra. The location of the pathology accounts for the clinical features. The histological hallmark of PSP is the presence of globose neurofibrillary tangles in the affected subcortical nuclei. Neurofibrillary tangles are composed of abnormally phosphorylated tau, a microtubule-associated protein that is involved in maintenance of the cytoskeleton. Abnormalities near or in the gene coding for tau are implicated in the pathogenesis of PSP. The multiple neurotransmitter abnormalities, including those affecting dopamine, acetylcholine, gamma-aminobutyric acid and norepinephrine (noradrenaline) systems and pathways, as well as both pre- and post-synaptic pathology, make pharmacological therapy of PSP a challenge. Although an individual patient may respond to a drug, in general patients with PSP have a minimal response and a short duration of sustained benefit.
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PMID:Progressive supranuclear palsy: clinical features, pathophysiology and management. 1188 46