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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 768-781 |
| Number of pages | 14 |
| Journal | Annals of Neurology |
| Volume | 43 |
| Issue number | 6 |
| DOIs | |
| State | Published - Jun 1998 |
Fingerprint
ASJC Scopus subject areas
- Neuroscience(all)
Cite this
Hereditary form of parkinsonism-dementia. / Muenter, Manfred D.; Forno, Lysia S.; Hornykiewicz, Oleh; Kish, Stephen J.; Maraganore, Demetrius M.; Caselli, Richard John; Okazaki, Haruo; Howard, Frank M.; Snow, Barry J.; Calne, Donald B.
In: Annals of Neurology, Vol. 43, No. 6, 06.1998, p. 768-781.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Hereditary form of parkinsonism-dementia
AU - Muenter, Manfred D.
AU - Forno, Lysia S.
AU - Hornykiewicz, Oleh
AU - Kish, Stephen J.
AU - Maraganore, Demetrius M.
AU - Caselli, Richard John
AU - Okazaki, Haruo
AU - Howard, Frank M.
AU - Snow, Barry J.
AU - Calne, Donald B.
PY - 1998/6
Y1 - 1998/6
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=15144345616&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=15144345616&partnerID=8YFLogxK
U2 - 10.1002/ana.410430612
DO - 10.1002/ana.410430612
M3 - Article
C2 - 9629847
AN - SCOPUS:15144345616
VL - 43
SP - 768
EP - 781
JO - Annals of Neurology
JF - Annals of Neurology
SN - 0364-5134
IS - 6
ER -