ParkinsonCanadaV1, Main, Exploration, bibRecord, 003A37

Hereditary form of parkinsonism-dementia

Identifieur interne : 003A37 ( Main/Exploration ); précédent : 003A36; suivant : 003A38

Hereditary form of parkinsonism-dementia

Auteurs : M. D. Muenter [États-Unis] ; L. S. Forno [États-Unis] ; O. Hornykiewicz [Autriche] ; S. J. Kish [Canada] ; D. M. Maraganore [États-Unis] ; R. J. Caselli [États-Unis] ; H. Okazaki [États-Unis] ; F. M. Jr Howard [États-Unis] ; B. J. Snow [Australie] ; D. B. Calne [Canada]

Source :

Annals of neurology [ 0364-5134 ] ; 1998.

RBID : Pascal:98-0304670

Descripteurs français

Pascal (Inist)
- Parkinson maladie, Héréditaire, Démence, Etude familiale, Anatomopathologie, Encéphale, Phénotype, Analyse biochimique, Homme.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Biochemical analysis, Brain (vertebrata), Dementia, Family study, Hereditary, Human, Parkinson disease, Pathology, Phenotype.

Abstract

In four generations of a family, 13 members were afflicted with an autosomal dominant disorder characterized by young age at onset, early weight loss, and rapidly progressive dopa-responsive parkinsonism, followed later by dementia and, in some, by hypotension. Intellectual dysfunction began with subjective memory loss and objective visuospatial dysfunction and was followed later by decline of frontal lobe cognitive and memory functions. Neuropathological examination in 4 autopsied cases showed neuronal loss in the substantia nigra and locus ceruleus and widespread Lewy bodies, many of them in the cerebral cortex; those in the hypothalamus and locus ceruleus were often of bizarre shapes. Other findings were vacuolation of the temporal cortex, unusual neuronal loss and gliosis in the hippocampus (CA 2/3), and neuronal loss in the nudeus basalis. There were no neuritic plaques, neurofibrillary tangles, or amyloid deposits. Positron emission tomography in 3 patients showed decreased striatal uptake of fluorodopa. Neurochemical analysis of an autopsied brain showed a pronounced decrease in choline acetyltransferase activity in the frontal and temporal cortices and hippocampus and a severe depletion of striatal dopamine with a pattern not typical of classic Parkinson's disease.

Affiliations:

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Le document en format XML

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Biochemical analysis</term>
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<term>Human</term>
<term>Parkinson disease</term>
<term>Pathology</term>
<term>Phenotype</term>
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<term>Etude familiale</term>
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<term>Phénotype</term>
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<front><div type="abstract" xml:lang="en">In four generations of a family, 13 members were afflicted with an autosomal dominant disorder characterized by young age at onset, early weight loss, and rapidly progressive dopa-responsive parkinsonism, followed later by dementia and, in some, by hypotension. Intellectual dysfunction began with subjective memory loss and objective visuospatial dysfunction and was followed later by decline of frontal lobe cognitive and memory functions. Neuropathological examination in 4 autopsied cases showed neuronal loss in the substantia nigra and locus ceruleus and widespread Lewy bodies, many of them in the cerebral cortex; those in the hypothalamus and locus ceruleus were often of bizarre shapes. Other findings were vacuolation of the temporal cortex, unusual neuronal loss and gliosis in the hippocampus (CA 2/3), and neuronal loss in the nudeus basalis. There were no neuritic plaques, neurofibrillary tangles, or amyloid deposits. Positron emission tomography in 3 patients showed decreased striatal uptake of fluorodopa. Neurochemical analysis of an autopsied brain showed a pronounced decrease in choline acetyltransferase activity in the frontal and temporal cortices and hippocampus and a severe depletion of striatal dopamine with a pattern not typical of classic Parkinson's disease.</div>
</front>
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<country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Hornykiewicz, O" sort="Hornykiewicz, O" uniqKey="Hornykiewicz O" first="O." last="Hornykiewicz">O. Hornykiewicz</name>
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<country name="Canada"><noRegion><name sortKey="Kish, S J" sort="Kish, S J" uniqKey="Kish S" first="S. J." last="Kish">S. J. Kish</name>
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<name sortKey="Calne, D B" sort="Calne, D B" uniqKey="Calne D" first="D. B." last="Calne">D. B. Calne</name>
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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

Hereditary form of parkinsonism-dementia

Hereditary form of parkinsonism-dementia

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri