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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present two patients aged 66 and 69, with a rapidly progressive disease (10 and 15 months' duration) in which the presenting symptom was instability of gait. Later dementia was also a prominent feature. One case had myoclonus. Repeated EEGs showed symmetrical slowing in one case and periodic generalised bursts of triphasic waves at 1 cps superimposed upon a slow (3-4 cps) background activity in the other. The pathological findings consisted of classical Creutzfeld-Jakob disease (CJD), Kuru plaques (KP) were disseminated in the brain, but were more numerous in the cerebellum, putamen and thalamus. Neurons with large vacuoles in the cytoplasm were numerous in the putamen, thalamus and anterior horns. Stress is laid upon the common findings in both CJD and Kuru (K) (clinical features, pathological data, lack of antibody response, transmissibility, change in pattern on transmission). The possibility of a common origin of the two diseases is discussed.
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PMID:Kuru plaques in the brain of two cases with Creutzfeldt-Jakob disease. A common origin for the two diseases? 39 Jan 1

We describe a 37-year-old man with a 30-month history of progressive dementia, myoclonus and prominent ataxia with the additional clinical features of dysautonomia and delirious psychomotor excitement and with relatively preserved verbal responses. The pathological changes include 1) severe neuronal loss and gliosis without spongiform change of the thalamus and inferior olives associated with gliosis of the midbrain tegmentum, and demyelination and gliosis of the central tegmental tract, olivo-cerebellar fibers and spino-olivary tract, and 2) mild spongiform encephalopathy of the cerebral cortex. Although the latter implies that the present case may be an example of the rare thalamic form of Creutzfeld-Jakob disease, the preferential and severe involvement of the thalamus and inferior olives without spongiform change as well as the clinical features are quite reminiscent of primary thalamic degeneration [Stern 1939]. This case draws further attention to the relationship between spongiform encephalopathy and degeneration without spongiform change of the thalamus and olivary system.
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PMID:Degeneration of the thalamus and inferior olives associated with spongiform encephalopathy of the cerebral cortex. 329 94

A case of Creutzfeldt-Jakob disease (CJD) in a 76 year-old man is presented. The clinical picture included a rapid progressive dementia associated with ataxia, global aphasia, myoclonus and pyramidal signs; death occurred after about 4 months. There was an antecedent of chemical trauma caused by plant liquid on right eye 12 to 18 months before. The electroencephalogram showed diffuse slow activity and the neuropathological findings were typical. The detection of a protein called "prion" or PrP27-30 in the scrapie and the finding that some proteins isolated from brain of patients with CJD have reacted with antibodies raised against it have improved the knowledge about the infectious agent. The recent reports of young patients with CJD after human growth hormone therapy prepared from pools of pituitary glands obtained at autopsy are alarming and probably new cases will be described.
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PMID:[Creutzfeldt-Jakob disease: report of a case]. 330 Jun 14

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

In a 64-year old woman with progressive visual impairment for 4 weeks, probable Creutzfeld-Jakob disease without myoclonus was diagnosed after rapidly progressive mental deterioration had also developed, and CSF and EEG showed characteristic findings. Pattern-reversal and flash visually-evoked potentials, recorded 5, 6, 7 and 8 weeks after onset, showed a maximum P100 latency of 210 ms, 8 weeks after onset, and a maximum N75/P100 amplitude of 33.1 microV, 5 weeks after onset. While the P100 latency progressively increased, the N75/P100 amplitude continuously decreased after reaching its maximum. In the Heidenhain type of Creutzfeld-Jakob disease giant visually-evoked potentials may be recorded during the early stages of the disease, even in the absence of myoclonus. Visually-evoked potentials may prove useful in diagnosing Creutzfeld-Jakob disease with atypical initial presentation.
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PMID:Giant visually-evoked potentials without myoclonus in the Heidenhain type of Creutzfeld-Jakob disease. 1050 Feb 66

The pathogenesis underlying the typical findings in Creutzfeldt-Jakob disease (CJD) such as periodic EEG changes or myoclonus is not fully understood. The thalamus possesses a high density of inhibitory neurones and serves as a crucial pacemaker of rhythmic EEG activity. As inhibitory neurones expressing parvalbumin (PV) are reduced in the cerebral cortex and hippocampus in sporadic CJD (sCJD), we studied the distribution and number of PV-immunoreactive neurones in sCJD thalami in order to determine whether damage to them could account for certain clinical findings. Immuno histochemical analysis was performed on the thalami from 21 sCJD patients and five controls. The number of PV+ neurones was counted in the thalamic nuclei and compared with clinical and molecular findings. In sCJD patients, PV+ neurones were significantly reduced in the ventrolateral posterior (VLp), ventrolateral anterior (VLa), anteroventral (AV), lateral dorsal (LD), mediodorsal (MD) and reticular (Re) thalamic nuclei (P < 0.05). The VLp was especially damaged in sCJD patients with homozygosity for methionine at codon 129 and scrapie prion protein (PrP(Sc)) type 1. Patients with typical EEG changes [periodic sharp wave complexes (PSWCs)] and myoclonus had a predominant loss of PV+ cells in the reticular thalamic nucleus. In conclusion, our data support the hypothesis that the damage to PV-immunoreactive neurones determines the generation of certain typical clinical features of CJD, i.e. PSWCs associated with myoclonus.
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PMID:Clinical findings in sporadic Creutzfeldt-Jakob disease correlate with thalamic pathology. 1239 Sep 80

Multiple system atrophy (MSA) is a sporadic alpha-synucleinopathy clinically characterized by variable degrees of parkinsonism, cerebellar ataxia and autonomic dysfunction. The histopathological hallmark of MSA is glial cytoplasmic inclusion (GCI). It is considered to represent the earliest stage of the degenerative process in MSA and to precede neuronal degeneration. Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal, rapidly progressive dementia generally associated with ataxia, pyramidal and extrapyramidal symptoms and myoclonus. Definite diagnosis needs neuropathological demonstration of variable degrees of spongiform degeneration of neuropil, neuronal loss, astro- and microgliosis, and the presence of abnormal deposits of the misfolded prion protein PrP(res) . Both diseases, CJD and MSA are infrequent among neurodegenerative diseases. In the present report we describe clinical and neuropathological findings of a previously healthy 64-year-old woman who developed symptoms of classical CJD. At post mortem examination, the brain showed in addition to classical methionine/methionine PrP(res) type 1 (MM1) sCJD changes and moderate Alzheimer-type pathology, features of "preclinical" MSA with minimal histopathological changes. These were characterized by discrete amounts of alpha-synuclein immunoreacive glial cytoplasmic inclusions in the striato-nigral system, isolated intraneuronal inclusions in pigmented neurons of the substantia nigra, as well as some vermiform intranuclear inclusions. To our knowledge, this is the first report on the coexistence of definite sCJD and "minimal changes" MSA in the same patient.
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PMID:"Preclinical" MSA in definite Creutzfeldt-Jakob disease. 2169 62

Fatal familial insomnia is a rare disease caused by a D178N mutation in combination with methionine (Met) at codon 129 in the mutated allele of PRNP (D178N-129M haplotype). FFI is manifested by sleep disturbances with insomnia, autonomic disorders and spontaneous and evoked myoclonus, among other symptoms. This study describes new neuropathological and biochemical observations in a series of eight patients with FFI. The mediodorsal and anterior nuclei of the thalamus have severe neuronal loss and marked astrocytic gliosis in every case, whereas the entorhinal cortex is variably affected. Spongiform degeneration only occurs in the entorhinal cortex. Synaptic and fine granular proteinase K digestion (PrPres) immunoreactivity is found in the entorhinal cortex but not in the thalamus. Interleukin 6, interleukin 10 receptor alpha subunit, colony stimulating factor 3 receptor and toll-like receptor 7 mRNA expression increases in the thalamus in FFI. PrPc levels are significantly decreased in the thalamus, entorhinal cortex and cerebellum in FFI. This is accompanied by a particular PrPc and PrPres band profile. Altered PrP solubility consistent with significantly reduced PrP levels in the cytoplasmic fraction and increased PrP levels in the insoluble fraction are identified in FFI cases. Amyloid-like deposits are only seen in the entorhinal cortex. The RT-QuIC assay reveals that all the FFI samples of the entorhinal cortex are positive, whereas the thalamus is positive only in three cases and the cerebellum in two cases. The present findings unveil particular neuropathological and neuroinflammatory profiles in FFI and novel characteristics of natural prion protein in FFI, altered PrPres and Scrapie PrP (abnormal and pathogenic PrP) patterns and region-dependent putative capacity of PrP seeding.
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PMID:Identification of new molecular alterations in fatal familial insomnia. 2705 79

Sporadic Creutzfeld-Jakob disease (CJD) is a rare neurodegenerative disorder. It is uniformly fatal. Clinical signs include myoclonus, visual disturbances, cerebellar ataxia, akinetic mutism and pyramidal/extrapyramidal signs in addition to a rapidly progressive dementia. Premortem diagnosis is challenging due to the rarity of the condition and the subsequent low index of suspicion held for it. On literature review, isolated language impairment as the first neurological symptom occurs in only about 1% of patients with sporadic CJD (El Tawil et al. (2017, Acta Neurol Scand, 135: 316-23)). We present this patient's case, marked for the unusual presentation and the rapidity of decline, to emphasise the need for awareness of CJD as an important differential diagnosis on stroke units. In our case, magnetic resonance imaging findings drove the suspicion of sporadic CJD as the diagnosis. This seems to correlate with other case reports recognising CJD presenting with progressive aphasic disorders (Terrin et al. (2017, Neurol Sci, 38: 1535-7); Mandell et al. (1989, Neurology, 39: 55-8); Martory et al. (2012, Eur Neurol, 67: 360-2)).
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PMID:An unusual presentation of sporadic Creutzfeldt-Jakob disease. 3221 20


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