Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 72-year-old patient presenting acute painful partial left IIIrd nerve palsy with pupillary involvement. Due to the patient's age and mild hyperlipidemia a microangiopathic ischemic origin was assumed after a compressive or inflammatory cause had been excluded by magnetic resonance imaging, blood and cerebrospinal fluid analyses. Carotid ultrasound examination disclosed a high-grade stenosis of the ipsilateral internal carotid artery (ICA). In the absence of diabetes mellitus, other significant vascular risk factors and leukoencephalopathy indicative of advanced arteriosclerotic disease, we suggest a pathogenetic role of the ICA stenosis in ischemic IIIrd nerve palsy. The frequency of a IIIrd nerve palsy as the presenting symptom in patients with ICA stenosis as well as the frequency of an ICA stenosis being the cause in patients with isolated IIIrd nerve palsy is not well documented in the literature. Both seem to be rare but may be underestimated. We advocate cervicocerebral ultrasound examination in patients presenting IIIrd nerve palsy with no obvious or a presumed ischemic cause.
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PMID:Painful oculomotor nerve palsy - A presenting sign of internal carotid artery stenosis. 1020 12

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically transmitted cerebrovascular disease. Typically, the first clinical manifestation is migraine and the full clinical spectrum of the disease with recurrent strokes of the subcortical type, cognitive, and mood disorders is seen during the fourth and fifth decades of life. Vascular risk factors are usually absent in CADASIL patients and the diagnosis of the disease is particularly suspected in young adults with cerebrovascular events of unknown cause, diffuse leukoencephalopathy on computed tomography or magnetic resonance imaging, and a history of cerebrovascular diseases or dementia in many family members. We describe three Italian CADASIL patients who presented to medical attention for cerebrovascular events occurred after the age of 55 and had, in addition to hypertension and hyperlipidemia, thrombophilic risk factors such as hyperhomocysteinemia, elevated levels of lipoprotein(a), and antiphospholipid antibodies. Symptoms possibly related to cortical involvement, such as dysphasia and visual field deficits, were reported by two of these patients. We conclude that a diagnosis of CADASIL should not be disregarded in patients with vascular risk factors and presenting with symptoms not immediately referable to subcortical damage at ages more advanced than commonly reported.
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PMID:Thrombophilic risk factors and unusual clinical features in three Italian CADASIL patients. 1552 1

During the past 10 years, our understanding of the pathomechanism and pathophysiology of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) has improved through clinical examination, imaging studies, pathological studies, cell experiments and the development of transgenic mice. Although epidemiological studies of CADASIL in Japan have been limited, more than 100 cases of this condition have been diagnosed in Japan. In our laboratory, we diagnosed 37 CADASIL cases genetically and identified three features common to Japanese cases. One is the wide distribution of onset age for clinical symptoms other than migraine, with the onset of symptoms being later than age 60 in 22% of cases. Second, the majority (65%) of Japanese CADASIL cases have stroke risk factors, such as hypertension, hyperlipidemia, or smoking. Third, in 22% cases there was no definite family history of stroke. However, the previous diagnostic criteria proposed by Dabous excluded several definite cases in our cohort. Therefore, to avoid missing undiagnosed cases of CADASIL, we have generated new diagnostic criteria for Japanese CADASIL based on the knowledge accumulated during the past 10 years, and compared sensitivity of two criteria. In our diagnosed Japanese CADASIL cases, the sensitivity of the new criteria was 19% and 78% for probable and possible cases, respectively, and only one case was (Fig. 3) missed when using the new criteria. In comparison, the sensitivity of Dabous's was 11% and 51% for probable and possible cases, respectively, and 24% cases were excluded due to hypertension, elderly onset or no family history, although these cases showed recurrent strokes, white matter lesions and NOTCH3 mutations. Using our new criteria, diagnosis of CADASIL can be made even in cases with elderly onset, stroke risk factors, and obscure family history.
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PMID:[Diagnosis, pathomechanism and treatment of CADASIL]. 2268 9

The pathomechanisms of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are still under debate. Granular osmiophilic material (GOM), which accumulates around the basement membrane, and the extracellular domain of NOTCH3 (NECD) in the vessel are key molecules that contributes to the destruction of smooth muscle cells in CADASIL. In addition, GOM and NECD may be related to the dysfunction of cerebral small vessels in patients with CADASIL. In this review, the role of the accumulation of these abnormal proteins in the cerebral small vessels, and the pathomechanism from white matter lesions, microbleeds, and lacunar infarctions to vascular dementia are discussed. We diagnosed 63 CADASIL cases and identified 3 features that were common to Japanese cases. First, the ages of onset of clinical symptoms other than migraine were widely distributed; the age of onset of symptoms was greater than 60 years in more than 20% of the cases. Second, 65% of the Japanese CADASIL cases had stroke risk factors, such as hypertension, hyperlipidemia, or smoking. Third, in 20% of the cases, there was no family history of stroke. Therefore, new diagnostic criteria for Japanese patients with CADASIL were proposed on the basis of these clinical features in order to avoid missing cases of CADASIL. The criteria are useful for screening candidates of CADASIL, even in cases with elderly onset, stroke risk factors, and obscure family history.
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PMID:[Pathomechanisms and treatment of CADASIL]. 2383 84