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

Seven affected individuals from three generations in a kindred having over 250 members were identified as having possible, probable, or definite Creutzfeldt-Jakob disease. Spongiform encephalopathy was found at postmortem examination in two cases. Detailed inpatient neurological examinations were performed on four of the subjects, three of whom were first observed with supranuclear gaze paralysis, gait ataxia, and rapidly progressive dementia. Supranuclear gaze paresis can be seen as an early feature of Creutzfeldt-Jakob disease, although it has been regarded as a late sign. In this, the largest reported kindred of Creutzfeldt-Jakob disease, most of the affected patients were farmers. Possible modes of infection are discussed.
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PMID:Supranuclear gaze palsy in familial Creutzfeldt-Jakob disease. 635 15

A postmortem case of an atypical form of dural graft associated Creutzfeldt-Jakob disease (CJD) is described. A 42 year old man developed progressive spastic paresis 163 months after a cadaveric dura mater graft. He presented with no myoclonus and very late occurrence of periodic synchronous discharges on EEG. The prion protein (PrP) gene was homozygous for methionine at the polymorphic codon 129. Neuropathological examination disclosed plaque-like PrP deposits with atypical distribution of synaptic PrP accumulations in the brain. This patient represents an atypical form of dural graft associated CJD characterised by unusual clinicopathological features.
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PMID:Atypical form of dural graft associated Creutzfeldt-Jakob disease: report of a postmortem case with review of the literature. 1130 72

A nation wide survey demonstrated 129 case of CJD with cadaveric dura mater grafts in Japan to February 2007. These patients were identified to have received Lyodura during period between 1978 and 1991. Incubation period from grafting to the onset of symptoms varied from 16 months to 24.5 years. We conducted a retrospective review of the full medical records of 107 of these patients. Patients were divided into two groups by site of neurosurgical or orthopedic procedures (supratentorial vs. infratentorial). Hemiparesis or hemianopsia developed as an initial manifestation in 31.9% of 47 patients with supratentorial grafts but did not develop among nay of the infratentorial group (p<0.0001). Conversely, brainstem symptoms (nystagmus, diplopia, ipsilateral hearing loss, facial paresis or paresthesia) were noted in 25.0% of the infratentorial group, but were not seen in the supratentorial group (p<0.0001).
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PMID:[Dura mater related Creutzfeldt-Jakob disease in Japan: relationship between sites of grafts and clinical features]. 1769 94

We reported the case of a patient with Wernicke-Korsakoff syndrome (WKs) as an early clinical manifestation of sporadic Creutzfeld-Jakob disease (sCJD). The 66-year-old female complained of dizziness and imbalance which mostly occurred while walking. A neurological examination revealed a triad of symptoms characteristic for WKs such as gaze paresis, ataxia of limbs and trunk as well as memory disturbances with confabulations. The disturbances increased during the course of the disease, which led to the death of the patient four months after the appearance of the signs. The patient was finally diagnosed with sCJD disease. The most useful ancillary examination results supporting sCJD diagnosis were brain diffusion DWI MRI (diffusion weighted magnetic resonance imaging) and the presence of 14-3-3 protein in CSF (cerebrospinal fluid). Since that manifestation of sCJD is very unique other causes should be taken into consideration while making a final diagnosis.
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PMID:Wernicke-Korsakoff syndrome as a rare phenotype of sporadic Creutzfeldt-Jakob disease. 2938 Jun 64