Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical features of 44 Finnish patients with Creutzfeldt-Jakob disease (CJD) were analyzed with special emphasis on the differences between the sporadic and familial forms. The 32 sporadic patients comprised all neuropathologically verified cases of CJD in 1974-89 in Finland. The 12 familial patients were members of the same pedigree where CJD has been linked with a mutation at codon 178 of the PRNP gene. The median age at the onset of the disease was 62.5 years and median duration 4.5 months in sporadic patients, and 49 years and 20.5 months in familial CJD, respectively. 90 percent of both sporadic and familial patients had myoclonus. Typical periodic EEG change was seen in 72% of sporadic patients, whereas the familial patients showed only a progressive slowing of EEG.
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PMID:Clinical characteristics of familial and sporadic Creutzfeldt-Jakob disease in Finland. 835 77

We report a 61-year-old male with rapidly progressive dementia and gait disturbance. He was well until spring 1990 as a postmaster, when there was an onset of memory disturbance and mistakes in his job. In May 1990, his wife noted slurring of his speech. In August, there was an onset of gait disturbance. He fell down frequently. In October, he was seen by a neurologist, who found moderate dementia, small step gait, retropulsion, freezing, paratonic rigidity, bradykinesia and a restriction in the vertical gaze on him. His dementia and gait disturbance progressed rapidly and in May 1991, he developed fever and dyspnea and was admitted to Juntendo University Urayasu Hospital. On admission, he was chronically ill and wheezing rale was heard on both lung fields. Neurologically, he was awake but without response to the simplest examiner's command. Cranial nerves appeared intact except for a restriction in the upward gaze. His posture was opisthotonic with a decorticated posture. Marked rigidity was present in all four limbs. He could not sit or stand. Deep reflexes were diminished symmetrically. He was treated by supportive cares, however, he expired 12 days after his admission. In no time myoclonus was observed, nor PSD recorded in his EEG. Cranial CT scans revealed moderate cortical atrophy. The patient was discussed in a neurological CPC, and the chief discussant arrived at the conclusion that he had Creutzfeld-Jakob disease despite the absence of myoclonus and PSD. Postmortem examination revealed diffuse spongy state of the cerebral hemisphere as well as striatum.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A 61-year-old man with rapidly progressing dementia and gait disturbance]. 839 90

A 10-year-old boy underwent a posterior fossa craniectomy for removal of a grade 2 cerebellar astrocytoma. Dural closure was achieved by the placement of a dural graft. Eight years later the patient developed dementia and myoclonus. Electroencephalography demonstrated generalized slow activity that evolved into a pattern of periodic triphasic waves. Computed tomography scan and magnetic resonance imaging were unremarkable. Brain biopsy confirmed spongiform encephalopathy of the Creutzfeldt-Jakob type. In the light of previous reports of four similar occurrences, and of our own experience with two further cases of this disease, we believe that the cadaveric dura was the source of transmission of Creutzfeld-Jakob disease in our patient. The authors remark the importance of the awareness of this late complication of dural substitutes, both for the diagnosis of possible future cases and for taking preventive measures to stop the spread of the disease.
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PMID:Pediatric Creutzfeldt-Jakob disease: probable transmission by a dural graft. 840 7

We describe the MRI changes preceding the onset of myoclonus in two patients whose post-mortem examination confirmed the diagnosis of Creutzfeldt-Jakob disease (CJD). MRI showed changes in the striatum early in the course of CJD (2-6 months after the onset of apathy, interpreted as depression, and 1-2 months before the onset of further clinical symptoms). Only in one patient did electroencephalography record the typical triphasic sharp-waves, 1 month after MRI.
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PMID:Early MRI findings in Creutzfeldt-Jakob disease. 841 83

We report a case of Creutzfeldt-Jakob disease in a 38-year-old man, transmitted by a cadaveric dural graft. In August 1985, he underwent cranial nerve decompression for hemifacial spasm and received a cadaveric dural graft for dural closure. He had been well until he began to complain of blurred vision and headache in May, 1990. He developed dementia, myoclonus and urinary incontinence over the subsequent 3 months. He was admitted to our hospital in August, 1990. On admission, he was somnolent and showed gait disturbance, myoclonus in extremities and elevated deep tendon reflexes symmetrically. The results of analysis of blood, urinary and cerebrospinal fluid were normal. The initial computed tomography (CT) and magnetic resonance imaging detected no abnormality. Electroencephalography showed typical periodic synchronous discharge (PSD). There was progressive worsening of his neurological symptoms, and this developed into mutism in September, 1990. CT, 11 months after clinical onset, showed marked enlargement of the ventricles and the sulci. In view of his rapid worsening clinical course, PSD findings on electroencephalography, and delayed progressive changes of CT findings, the diagnosis of CJD disease was made. The cadaveric dural graft was suspected as the cause of the patient's condition. Since Thadani et al reported the first case of CJD transmitted by cadaveric dural graft in 1988, 3 other cases have been reported. This is most likely the 5th reported case of Creutzfeldt-Jakob disease transmitted by cadaveric dural graft.
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PMID:[Creutzfeldt-Jakob disease transmitted by cadaveric dural graft: a case report]. 845 5

We describe a case of a patient with Creutzfeldt-Jakob disease (CJD) characterized by a rapid clinical course lasting one and a half months, by: presence of focal dystonic movements at onset, absence of mental deterioration in the period preceding the impairment of consciousness, ataxia, myoclonus and periodic EEG abnormalities. The autopsy confirmed subacute spongiform encephalopathy, but no evident neuronal loss was observed. An acute clinical course of CJD may explain this latter histological finding which, in turn, probably provides an explanation for the absence of intellectual impairment.
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PMID:Rapidly progressive form of Creutzfeldt-Jakob disease without dementia: a case report. 870 72

Creutzfeldt-Jakob disease (CJD) is caused by an unusual prion protein. Rare CJD cases have been reported in Chinese individuals. This report describes the clinical manifestations of 14 Chinese individuals with clinically definite CJD from the National Taiwan University Hospital during the period 1976-1995. It is the largest case series of Chinese CJD up to now. All these patients fulfil the clinical definite diagnosis of CJD proposed by Brown et al. (1986), including rapidly evolving dementia, myoclonus, periodic electroencephalographic (EEG) activity (0.5-2 Hz) and death within 12 months. The clinical characteristics of the present series, including age at onset, sex ratio, duration, initial symptoms, neurological signs, EEG abnormalities, and neuroimaging studies were similar to those reported in other countries. However, there is a high incidence of initial ataxic gait as the presentation in our patients. Eight (57%) out of 14 patients initially had gait ataxia alone or in association with dementia. CJD should be considered in the differential provisional diagnosis of any middle-aged patient with a progressive ataxic syndrome.
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PMID:Is ataxic gait the predominant presenting manifestation of Creutzfeldt-Jakob disease? Experience of 14 Chinese cases from Taiwan. 886 27

We describe the clinical, neuropathological, immunohistochemical and transmission findings in three patients with Creutzfeldt-Jakob disease (CJD) with a substitution from methionine to arginine at codon 232 (M232R) in the prion protein (PrP) gene. The patients with M232R presented clinically with rapidly progressive dementia, myoclonus, and periodic synchronous discharges in the electroencephalogram. These findings were mostly consistent with those for sporadic CJD. All patients reached the stage of akinetic mutism between 2 and 6 months, and died between 4 and 24 months after the onset of the disease. Histopathological examination revealed spongiform changes, neuronal loss and severe astrocytosis. Immunohistochemical staining for PrP showed diffuse gray matter staining, including synaptic structures. However, no plaque-type PrP deposition was observed in the affected brain tissue sections. The brain homogenates from two patients were successfully transmitted to experimental animals. Since the same mutation was not found in 100 healthy control individuals, the mutation might be associated with the disease. The clinicopathological and experimental transmission studies of CJD patients with this PrP gene mutation may thus help us to determine both phenotypic variations and the potential infectivities in different forms of prion diseases.
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PMID:Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease: a clinicopathological, immunohistochemical and transmission study. 892 54

The accuracy of the clinical diagnosis of corticobasal degeneration (CBD) is unknown. To determine its diagnostic accuracy, we presented 105 cases with known neuropathologic diagnoses, including CBD (n = 10), progressive supranuclear palsy (PSP, n = 24), Parkinson's disease (n = 15), diffuse Lewy body disease (n = 14), multiple system atrophy (n = 16), postencephalitic parkinsonism (n = 7), Pick's disease (n = 7), Creutzfeldt-Jakob disease (n = 4), Alzheimer's disease (n = 4), vascular parkinsonism (n = 3), and Whipple's disease (n = 1), as clinical vignettes to six neurologists unaware of the autopsy findings. Reliability was measured with the kappa statistics. The neurologists' clinical diagnoses were compared with clinicopathologic diagnoses for sensitivity, specificity, and positive predictive values at first and last clinic visits. The group reliability for the diagnosis of CBD significantly improved from moderate for the first visit (mean = 34 months after onset) to substantial for the last (68 months after onset). For the first visit, mean sensitivity for CBD was low (35%), but specificity was near-perfect (99.6%). For the last visit, mean sensitivity minimally increased (48.3%), and specificity remained stable. False-negative misdiagnoses mainly occurred with PSP. False-positive diagnoses were rare. The extremely low sensitivity of the clinical diagnosis of CBD suggests that this disorder is markedly underdiagnosed. Although the validity of the clinical diagnosis might have been improved if neurologists could have examined these patients, more important is that this disorder was misdiagnosed by the primary neurologists. In our data set, the best predictors for the diagnosis of CBD included limb dystonia, ideomotor apraxia, myoclonus, and asymmetric akinetic-rigid syndrome with late onset of gait or balance disturbances.
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PMID:Accuracy of the clinical diagnosis of corticobasal degeneration: a clinicopathologic study. 900 6

We report two brothers with familial Creutzfeldt Jakob disease (CJD) having a heterozygous point mutation at codon 200 of the prion protein gene (Glu-->Lys): CJD200. The brothers were born in Kitakoma-gun, Yamanashi Prefecture. Patient 1, a 62-year-old man, developed CJD in 1995 and died nine months later. Patient 2, his brother, developed CJD200 at the age of 58 in 1982 and died 13 months later. They both exhibited rapidly progressive dementia with myoclonus and periodic synchronous discharges on electroencephalograms and became bedridden with three or four months. DNA analysis of peripheral blood cells of patient I showed a point mutation in the prion protein gene at codon 200: GAG-->AAG (Glu-->Lys). Five families with CJD200, 11 patients, have been reported in Japan to date, and nine of the patients from four families were born in Yamanashi Prefecture and vicinity. Our patients were born in the same area. We suspect that there is a cluster of CJD200 in Yamanashi Prefecture and vicinity. In Europe and America the phenotype of CJD200 has been reported to be heterogeneous, whereas the clinical features in Japanese cases are fairly homogeneous. We suspect that these patients have a common ancestor with a codon 200 mutation, and that that explains why the phenotypes are homogeneous.
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PMID:[Familial Creutzfeldt-Jakob disease with the heterozygous point mutation at codon 200 of the prion protein gene (Glu-->Lys)--report of CJD200 brothers of Yamanashi Prefecture origin]. 916 60


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