Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p.

Abstract:

:The identification of the alpha-synuclein gene on chromosome 4q as a locus for familial Lewy-body parkinsonism and of alpha-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 alpha-synuclein gene. Here we report the clinical and neuropathological findings in an individual from this family and describe unusual high molecular weight alpha-synuclein-immunoreactive proteins in brain homogenates from brain regions with the most marked neuropathology. Distinctive histopathology was revealed with alpha-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.

journal_name

Acta Neuropathol

journal_title

Acta neuropathologica

authors

Gwinn-Hardy K,Mehta ND,Farrer M,Maraganore D,Muenter M,Yen SH,Hardy J,Dickson DW

doi

10.1007/s004010051177

subject

Has Abstract

pub_date

2000-06-01 00:00:00

pages

663-72

issue

6

eissn

0001-6322

issn

1432-0533

journal_volume

99

pub_type

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