Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004153 (atherosclerosis)
 77,401 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a 64-year-old man who presented with severe left sided facial pain and cyanosis of the left ear, preauricular region and tongue is described. Digital subtraction angiography confirmed complete occlusion of the left external carotid artery. The patient was anticoagulated and his symptoms resolved over the following month, presumably due to improvement of collateral blood supply to the ischaemic areas. The literature on the clinical manifestations of external carotid ischaemia is reviewed and the relationship between facial pain, internal and external carotid atherosclerosis is emphasised.
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PMID:Spontaneous external carotid artery occlusion. 276 May 32

Premise This review summarises the pain syndromes that overlap between headache and facial pain and overlap between pain and cranial nerve lesion. Problem These syndromes share two features in common. First, they show both cranial nerve impairment (e.g. palsy, autonomic dysfunction) and pain; second, they have inflammatory (and/or small vessel) processes as the underlying mechanism. A typical representative of these syndromes is recurrent painful ophthalmoplegic neuropathy, which was previously called ophthalmoplegic migraine and was regarded as a migraine subtype. It is now supposed that this syndrome is caused by an inflammation of one of the ocular motor nerves. Other syndromes discussed in this review are optic neuritis, Tolosa-Hunt syndrome, ischaemic ocular motor nerve palsy, and the very rare Raeder's syndrome. Treatment of all these syndromes is mainly based on steroids. Potential solution Management of possibly underlying disorders such as multiple sclerosis or atherosclerosis should also be considered.
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PMID:Facial pain: Overlapping syndromes. 2839 51

Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL) is an acronym that describes an ultra-rare, hereditary, cerebral small vessel disease. The aim is to summarize current knowledge and recent findings concerning phenotype, genotype, pathogenesis, diagnoses, and treatment options of CARASAL. The method used in the study is a systematic literature review. CARASAL is clinically characterized by a wide range of predominantly central nervous system abnormalities. These include migraine, stroke with central facial palsy, facial pain, non-positional vertigo, cognitive dysfunction with impaired concentration and behavioral disinhibition, REM-sleep behavioral disorder, and depression. CARASAL is caused by point mutations in CTSA encoding cathepsin-A. Cathepsin-A is a carboxypeptidase that associates with the lysosomal enzymes b-galactosidase and neuraminidase, promoting their stabilization. In addition, cathepsin-A degradates endothelin-1. CARASAL is a primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy. So far, 19 patients have been reported. The frequency of CARASAL patients will most likely increase in the future, as CARASAL may be more frequently recognized with the increasingly available methods for genetic testing and advanced imaging techniques. The phenotypic and genotypic spectrum of CARASAL needs to be more extensively investigated and animal models for the disease need to be generated. Currently, the outcome cannot be sufficiently assessed, as too few cases have been reported.
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PMID:Update on hereditary, autosomal dominant cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). 3122 22