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)

Fusiform Aneurysms are encountered in elderly persons with advanced arteriosclerosis. When they are enlarged to compress the neighboring structures, they may resemble tumors symptomatically. Especially when situated in close relation to the optic nerve or chiasmatic region, pituitary tumor is likely to be suspected. This is a case of 62 year old female with a giant fusiform aneurysm of the right internal carotid artery extending to the middle cerebral artery which caused left homonymous hemianopsia and a large aneurysm in the cavernous portion of the left internal carotid artery with fusiform extension of the distal portion of the carotid artery which presented left blepharoptosis, dilated pupil and total ophthalmoplegia. The basilar artery and the right meningohypophyseal artery showed fusiform dilatation as well. Systemic atherosclerotic change, abdominal aortic aneurysm, nephrosclerosis were also accompanied. The computed tomography demonstrated the aneurysms distinctly. Left oculomotor palsy disappeared after six months with residue of left homonymous hemianopsia. Surgical intervention was not attempted, because of the widely distributed constitutional aneurysms in the whole body.
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PMID:[A case of multiple fusiform aneurysms presenting homonymous hemianopsia (author's transl)]. 52 70

In mammalian cells, mitochondria provide energy from aerobic metabolism. They play an important regulatory role in apoptosis, produce and detoxify free radicals, and serve as a cellular calcium buffer. Neurodegenerative disorders involving mitochondria can be divided into those caused by oxidative phosphorylation (OXPHOS) abnormalities either due to mitochondrial DNA (mtDNA) abnormalities, e.g., chronic external ophthalmoplegia, or due to nuclear mutations of OXPHOS proteins, e.g., complex I and II associated with Leigh syndrome. There are diseases caused by nuclear genes encoding non-OXPHOS mitochondrial proteins, such as frataxin in Friedreich ataxia (which is likely to play an important role in mitochondrial-cytosolic iron cycling), paraplegin (possibly a mitochondrial ATP-dependent zinc metalloprotease of the AAA-ATPases in hereditary spastic paraparesis), and possibly Wilson disease protein (an abnormal copper transporting ATP-dependent P-type ATPase associated with Wilson disease). Huntingon disease is an example of diseases with OXPHOS defects associated with mutations of nuclear genes encoding non-mitochondrial proteins such as huntingtin. There are also disorders with evidence of mitochondrial involvement that cannot as yet be assigned. These include Parkinson disease (where a complex I defect is described and free radicals are generated from dopamine metabolism), amyotrophic lateral sclerosis, and Alzheimer disease, where there is evidence to suggest mitochondrial involvement perhaps secondary to other abnormalities.
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PMID:Mitochondria and degenerative disorders. 1157 22