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)

Ten patients with clinically diagnosed Alzheimer's disease, including three cases of trisomy 21 (Down's syndrome), developed a chronic myoclonic disorder. The technique of jerk-locked averaging of EEG activity was used to analyze the myoclonus. Seven subjects demonstrated a focal, contralateral central, negative cerebral potential antecedent to the myoclonic jerks. This EEG event differs from that previously reported to be associated with the myoclonus of subacute spongiform encephalopathy (Creutzfeldt-Jakob disease).
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PMID:Physiologic analysis of the myoclonus of Alzheimer's disease. 623 78

Five to 10% of patients with Creutzfeldt-Jakob disease have a clinical course that extends for 2 years or more. In the present series 33 (9%) of 357 histopathologically verified cases, including 15 (7%) of 225 transmitted cases, fell into this long-duration category, the longest transmitted case having had a 13-year duration. As a group these cases were characterized by a higher familial representation (30%), a younger age at onset (average, 48 years), and lower frequencies of myoclonus (79%) and periodic electroencephalographic activity (45%) than occur in series of unselected cases. The clinical course most often showed a long, very slowly progressive first stage, with symptoms limited to intellectual deterioration or behavioral abnormalities, followed by a shorter, rapidly progressive terminal stage with both mental and physical deterioration. Although transmission of disease by primate inoculation was less successful in this group of long-duration cases (64%) than in cases of shorter duration (88%), incubation periods and durations of illness in the inoculated animals bore no relation to the duration of illness in the patients. Clinical differentiation from other chronic dementing processes, particularly Alzheimer's disease, can prove impossible; however, the correct pathological diagnosis was readily evident by light microscopic examination, and spongiosis was at least as prominent as gliosis in all but 4 (15%) of the 27 patients studied postmortem, the same frequency found in case series not selected for length of illness.
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PMID:Creutzfeldt-Jakob disease of long duration: clinicopathological characteristics, transmissibility, and differential diagnosis. 638 23

Myoclonus and progressive intellectual deterioration developed in a 46-year-old woman with trisomy 21 (Down's syndrome) during the final stages of her illness. Her condition was clinically diagnosed as Creutzfeldt-Jakob disease, but necropsy demonstrated the changes characteristic of Alzheimer's disease and cerebrovascular amyloidosis.
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PMID:Myoclonus in Down's syndrome. Association with alzheimer's disease. 645 6

We report the clinical, SPET, immunohistochemical and DNA features of an early-onset familial Alzheimer's disease (FAD) in an Argentine pedigree of South American indian ethnic background. Pedigree spans 5 generations comprising more than 110 biological relatives. Clinical data supported the diagnosis of early onset FAD (mean age at onset 38.9 years) in 10 family members, including 3 with pathological confirmation (mean age at death 48.5). The pattern of transmission suggested autosomal dominant inheritance. Prominent features were mood changes, early language impairment, myoclonus, seizures and cerebellar signs. SPET displayed bilateral frontal, temporo-parietal and cerebellar hypoperfusion in early stages and in an asymptomatic member at risk, suggesting that SPET may have predictive value in this family. Immunohistochemistry showed beta amyloid deposits within neuritic plaques and vessel walls and no anti-PrP immunoreactivity. DNA analysis showed no abnormalities in the beta amyloid precursor protein gene. The identification of additional genetic defects in well characterized independent FAD pedigrees will contribute to the understanding of the pathogenesis of Alzheimer's disease.
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PMID:Early onset Alzheimer's disease in a South American pedigree from Argentina. 773 77

A 48-year-old female developed apraxia, followed by aphasia and dementia. Clinical examination also showed an alien member sign, supranuclear gaze paresis, myoclonus and rigidity on the right arm. The examination of the frontal lobe biopsy showed typical lesions of Alzheimer's disease as the only neuropathological abnormality. The association of this clinical syndrome with Alzheimer's pathology is unusual.
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PMID:[Alien limb behavior associated with Alzheimer's disease]. 780 54

We present clinical, neuropsychological, and neuropathologic data on a large pedigree including 34 subjects with early-onset progressive dementia. The mean (+/- SD) age at onset was 46 +/- 3.5 years and the mean age at death 52.6 +/- 5.7 years. Twelve patients were clinically diagnosed as having probable Alzheimer's disease (AD) according to the NINCDS-ADRDA criteria. Neuropsychological evaluation, performed at a moderate stage of the disease, was available in six subjects and showed a classic pattern of cognitive deficit. Myoclonus and extrapyramidal signs were common, and seizures were present in all affected subjects. There were neuropathologic changes typical of AD in two brains. A significant lod score of 5.48 was observed at a recombination fraction of theta = 0.0 with the genetic marker D14S43, thereby establishing that the responsible gene was located on chromosome 14q24.3. These results suggest that epilepsy could represent a particular feature in AD families linked to chromosome 14q.
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PMID:A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic, and genetic characterization. 782 41

This is a case of Alzheimer disease with myoclonus and periodic spikes on EEG. A 56-year-old man developed progressive dementia and, 3 years later, generalized convulsions. Eight years later, he showed myoclonus and periodic spikes on EEG. Cranial CT showed cortical atrophy and ventricular dilatation. He became apallic and died of pneumonia at the age of 65.9 years after the onset of the disease. The brain weighed 1,050 g. Neuropathologically, diffuse neuronal loss, abundant neurofibrillary tangles and senile plaques, particularly diffuse plaques, were found extensively in the cerebral cortex. The white matter was preserved. In the Ammon's horn, abundant neurofibrillary tangles and senile plaques were observed. Grumose degeneration of the cerebellar dentate nucleus, Kuru plaques or prions were not found. Numerous diffuse plaques of the cerebral cortex have rarely been reported in autopsy cases of Alzheimer disease with myoclonus and periodic spikes on EEG.
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PMID:An autopsy case of Alzheimer disease with myoclonus and periodic spikes on EEG. 789 27

A family of Finnish descent with very-early-onset Alzheimer's disease has been identified. Genetic analysis of this family eliminated the amyloid precursor protein gene as the pathogenic locus, but strongly implicated a locus on chromosome 14q23.4 between D14S52 and D14S55. The early age at onset of the disease (average, 36 years; range, 35-39 years), the rapid progression, and the early and prominent myoclonus, while they appear to be frequent findings in the chromosome 14-encoded form of Alzheimer's disease, raised the clinical suspicion of prion disease. However, sequencing the prion gene-coding region of 2 affected members of the pedigree failed to show any abnormality. Apart from the presence of modest cortical vacuolar change, the pathological features of our index patient appeared typical of Alzheimer's disease with abundant senile plaques immunoreactive with beta-amyloid, but not with prion protein antibodies.
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PMID:Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description. 808 Feb 40

We report the clinical and neuropathological features of chromosome 14-linked familial Alzheimer's disease (14qFAD) in affected members of the L family. Some clinical information on all 16 known affected individuals and detailed neuropathological findings in 6 family members were available for review. Common features of the phenotype of 14qFAD in the L family included onset of dementia before the age of 50, early progressive aphasia, early-appearing myoclonus and generalized seizures, paratonia, cortical atrophy, numerous and extensive senile plaques and neurofibrillary tangles, and prominent amyloid angiopathy. Descriptions of phenotypic features were available for six additional recently defined 14q-linked FAD kindreds: the findings in four of them (FAD4, FAD2, A, B) indicated a relatively consistently shared 14qFAD phenotype, conforming closely with the specific clinical and neuropathological characteristics noted in the L family. Comparisons also suggested several ostensible phenotypic variants in 14qFAD: (1) In two 14q-linked kindreds (SNW/FAD3, FAD1), affected individuals in some instances were noted to survive to age 70 or beyond and the mean age at onset (> 49 years) in these two kindreds was somewhat higher than in their five 14qFAD counterparts (< 48 years in each); (2) in the SNW/FAD3 kindred, seizures and myoclonus were absent in all 10 subjects examined; and (3) cerebellar amyloid plaques were variably present within and among several 14qFAD kindreds. Comparisons with phenotypic features recently detailed in three kindreds (TOR3, F19, ROM) with codon 717 amyloid precursor protein gene mutations (i.e., APP717 FAD) suggested several distinctions: Prominent progressive aphasia, myoclonus, seizures, and paratonia were all apparently less prevalent in APP717 FAD, with language function predominantly spared over the initial disease course. The extent of homogeneity and heterogeneity in the clinical and neuropathological phenotype of 14q-linked FAD and its possible meaningful distinctions from the phenotypes of APP717 FAD await further determination.
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PMID:Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred. 808 Feb 40

We have recently discovered in Torino (Italy) a new pedigree with early-onset Alzheimer's disease. The index patient is a woman who, at the age of 43 years, showed progressive memory impairment and ideomotor apraxia. Several relatives of the patient have had a history of dementia. The ancestors of the patient were from Calabria (southern Italy) and members of the family emigrated to the north of Italy, to France, and to the United States. Up to now, the new kindred comprises 1950 members, distributed in eight generations. Thirty members affected with Alzheimer's disease have been identified. Neuropathologic confirmation of antemortem clinically diagnosed Alzheimer's disease has been achieved for one patient. The pedigree is consistent with autosomal dominant inheritance. The clinical course of the disease is fairly uniform: the first symptom is memory loss, beginning around age 40 years. Psychiatric symptoms like hallucinations and delusions follow. At a later stage of the disease, several patients developed myoclonus and generalized epileptic seizures and eventually died with profound dementia. The "Torino family" shows several genealogic and clinical similarities with other large multigenerational familial Alzheimer's disease pedigrees originating from the Calabria region.
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PMID:A new Italian pedigree with early-onset Alzheimer's disease. 819 27


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