Hereditary form of parkinsonism-dementia

Manfred D. Muenter, Lysia S. Forno, Oleh Hornykiewicz, Stephen J. Kish, Demetrius M. Maraganore, Richard John Caselli, Haruo Okazaki, Frank M. Howard, Barry J. Snow, Donald B. Calne

Research output: Contribution to journalArticle

163 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)768-781
Number of pages14
JournalAnnals of Neurology
Volume43
Issue number6
DOIs
StatePublished - Jun 1998

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Corpus Striatum
Locus Coeruleus
Amyloid Plaques
Parkinsonian Disorders
Frontal Lobe
Temporal Lobe
Dementia
Hippocampus
Lewy Bodies
Dihydroxyphenylalanine
Neurofibrillary Tangles
Gliosis
Choline O-Acetyltransferase
Memory Disorders
Substantia Nigra
Age of Onset
Positron-Emission Tomography
Cerebral Cortex
Hypotension
Cognition

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Muenter, M. D., Forno, L. S., Hornykiewicz, O., Kish, S. J., Maraganore, D. M., Caselli, R. J., ... Calne, D. B. (1998). Hereditary form of parkinsonism-dementia. Annals of Neurology, 43(6), 768-781. https://doi.org/10.1002/ana.410430612

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 journalArticle

Muenter, MD, Forno, LS, Hornykiewicz, O, Kish, SJ, Maraganore, DM, Caselli, RJ, Okazaki, H, Howard, FM, Snow, BJ & Calne, DB 1998, 'Hereditary form of parkinsonism-dementia', Annals of Neurology, vol. 43, no. 6, pp. 768-781. https://doi.org/10.1002/ana.410430612
Muenter MD, Forno LS, Hornykiewicz O, Kish SJ, Maraganore DM, Caselli RJ et al. Hereditary form of parkinsonism-dementia. Annals of Neurology. 1998 Jun;43(6):768-781. https://doi.org/10.1002/ana.410430612
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. / Hereditary form of parkinsonism-dementia. In: Annals of Neurology. 1998 ; Vol. 43, No. 6. pp. 768-781.
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