Hereditary form of parkinsonism—dementia
Identifieur interne : 001E88 ( Main/Exploration ); précédent : 001E87; suivant : 001E89Hereditary form of parkinsonism—dementia
Auteurs : Muenter [États-Unis] ; Lysia S. Forno [États-Unis] ; Oleh Hornykiewicz [Autriche] ; Stephen J. Kish [Canada] ; Demetrius M. Maraganore [États-Unis] ; Richard J. Caselli [États-Unis] ; Haruo Okazaki [États-Unis] ; Frank M. Howard Jr. [États-Unis] ; Barry J. Snow [Nouvelle-Zélande] ; Donald B. Calne [Canada]Source :
- Annals of Neurology [ 0364-5134 ] ; 1998-06.
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 nucleus 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.
Url:
DOI: 10.1002/ana.410430612
Affiliations:
- Autriche, Canada, Nouvelle-Zélande, États-Unis
- Arizona, Californie, Minnesota, Ontario, Vienne (Autriche)
- Vienne (Autriche)
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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 nucleus 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></TEI><affiliations><list><country><li>Autriche</li><li>Canada</li><li>Nouvelle-Zélande</li><li>États-Unis</li></country><region><li>Arizona</li><li>Californie</li><li>Minnesota</li><li>Ontario</li><li>Vienne (Autriche)</li></region><settlement><li>Vienne (Autriche)</li></settlement></list><tree><country name="États-Unis"><region name="Arizona"><name sortKey="Muenter" sort="Muenter" uniqKey="Muenter" last="Muenter">Muenter</name></region><name sortKey="Caselli, Richard J" sort="Caselli, Richard J" uniqKey="Caselli R" first="Richard J." last="Caselli">Richard J. Caselli</name><name sortKey="Forno, Lysia S" sort="Forno, Lysia S" uniqKey="Forno L" first="Lysia S." last="Forno">Lysia S. Forno</name><name sortKey="Howard Jr, Frank M" sort="Howard Jr, Frank M" uniqKey="Howard Jr F" first="Frank M." last="Howard Jr.">Frank M. Howard Jr.</name><name sortKey="Maraganore, Demetrius M" sort="Maraganore, Demetrius M" uniqKey="Maraganore D" first="Demetrius M." last="Maraganore">Demetrius M. Maraganore</name><name sortKey="Okazaki, Haruo" sort="Okazaki, Haruo" uniqKey="Okazaki H" first="Haruo" last="Okazaki">Haruo Okazaki</name></country><country name="Autriche"><region name="Vienne (Autriche)"><name sortKey="Hornykiewicz, Oleh" sort="Hornykiewicz, Oleh" uniqKey="Hornykiewicz O" first="Oleh" last="Hornykiewicz">Oleh Hornykiewicz</name></region></country><country name="Canada"><region name="Ontario"><name sortKey="Kish, Stephen J" sort="Kish, Stephen J" uniqKey="Kish S" first="Stephen J." last="Kish">Stephen J. Kish</name></region><name sortKey="Calne, Donald B" sort="Calne, Donald B" uniqKey="Calne D" first="Donald B." last="Calne">Donald B. Calne</name></country><country name="Nouvelle-Zélande"><noRegion><name sortKey="Snow, Barry J" sort="Snow, Barry J" uniqKey="Snow B" first="Barry J." last="Snow">Barry J. Snow</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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