Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several hereditary conditions affecting cerebral, retinal and systemic microvessels have recently been described. They include CADASIL, CRV, and HERNS. We here report on a variant form of a hereditary systemic angiopathy (HSA) affecting two generations of a Caucasian family. Clinical symptoms of HSA appear in the mid-forties and are characterized by visual impairment, migraine-like headache, skin rash, epileptic seizures, progressive motor paresis and cognitive decline. Late symptoms include hepatic and renal failure. Retinal capillary microaneurysms and arteriolar tortuosity are associated with marked optic disc atrophy. Radiological hallmarks consist of multiple cerebral calcifications and tumor-like subcortical white matter lesions. Brain, peripheral nerve, muscle, kidney and colon biopsies have revealed a multi organ small vessel involvement with partly altered endothelium, perivascular inflammation and thrombotic microangiopathy. No curative therapeutic options are known for hereditary cerebral vasculopathies. The use of cyclophosphamide, azathioprine and methotrexate was of no benefit in our cases of HSA. Early diagnosis of hereditary systemic angiopathies is important in order to prevent patients from repetitive invasive diagnostic measures and to avoid the use of inappropriate and potentially harmful drugs.
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PMID:Hereditary systemic angiopathy (HSA) with cerebral calcifications, retinopathy, progressive nephropathy, and hepatopathy. 1820 7

Friedrich Nietzsche (1844-1900) was a remarkable philologist-philosopher while remaining in a condition of ill-health. Issues about his wandering/disruptive behavior that might be a consequence and/or protection against his cognitive decline and multifaceted disease are presented. The life complex that raises speculations about its etiology is constituted by: insight, creativity and wandering behavior besides several symptoms and signs of disease(s), mainly neurological one. The most important issue to be considered at the moment is not the disease diagnosis (Lissauer's general paresis or CADASIL, e.g.), but the probable Nietzsche's great cognitive reserve linked to the multifactorial etiology (genetic and environmental), and shared characteristics both to creativity and psychopathology. This makes any disease seems especial regarding Nietzsche, and whichever the diagnostic hypothesis has to consider the Nietzsche's unique background to express any disease(s).
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PMID:Friedrich Nietzsche: the wandering and learned neuropath under Dionisius. 2651 22

Crossed vertical gaze palsy refers to a rare combination of elevation paresis in one eye and depression palsy in the fellow eye. It was once reported in a patient with unilateral infarction involving the mesodiencephalic junction, and was ascribed to selective disruption of the fibers projecting from the rostral interstitial nucleus of the medial longitudinal fasciculus (riMLF) to the oculomotor nuclear complex. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare cause of ophthalmoplegia and crossed vertical gaze palsy has not been described in this disorder. Our patient with a circumscribed acute infarction involving the left mesodiencephalic junction due to CADASIL showed both upward and downward gaze palsy in both eyes, but more marked depression paresis in the ipsilesional eye and more conspicuous elevation deficit in the contralesional eye, which was consistent with crossed vertical gaze palsy. We provide alternate explanation for this rare phenotype of vertical gaze palsy. Selective disruption of riMLF fibers may cause crossed vertical gaze palsy in unilateral mesodiencephalic lesion.
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PMID:An alternative mechanism of crossed vertical gaze palsy in unilateral mesodiencephalic infarction. 3322 Nov 35