Distinctive neuropathology revealed by α-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p
Gwinn-Hardy, K. ; Mehta, N. D. ; Farrer, M. ; Maraganore, D. ; Muenter, M. ; Yen, S. -H. ; Hardy, J. ; Dickson, D. W.
Springer
Published 2000
Springer
Published 2000
| ISSN: |
1432-0533
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| Keywords: |
Key words Dementia ; Lewy body ; Neuropathology ; Synuclein ; Western blotting
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
Abstract The identification of the α-synuclein gene on chromosome 4q as a locus for familial Lewy-body parkinsonism and of α-synuclein as a component of Lewy bodies has heralded a new era in the study of Parkinson’s disease. We have identified a large family with Lewy body parkinsonism linked to a novel locus on chromosome 4p15 that does not have a mutation in the α-synuclein gene. Here we report the clinical and neuropathological findings in an individual from this family and describe unusual high molecular weight α-synuclein-immunoreactive proteins in brain homogenates from brain regions with the most marked neuropathology. Distinctive histopathology was revealed with α-synuclein immunostaining, including pleomorphic Lewy bodies, synuclein-positive glial inclusions and widespread, severe neuritic dystrophy. We also discuss the relationship of this familial disorder to a Lewy body disease clinical spectrum, ranging from Parkinson’s disease to dementia with psychosis.
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| Type of Medium: |
Electronic Resource
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| URL: |