Gelsolin variant and beta-amyloid co-occur in a case of Alzheimer's with Lewy bodies.
Familial amyloidosis, Finnish type (FAF), is an autosomal dominant form of amyloidosis which is related to a point mutation in the gelsolin gene localized on chromosome 9. The mutation corresponds to codon 187 of the secreted form of gelsolin, and is expressed in the amyloid fibril at residue 15. Our original FAF patient was demented, and neuropathological analysis showed Alzheimer type brain lesions associated with both classical and cortical Lewy bodies. Furthermore, antiserum against the gelsolin-derived FAF amyloid reacted strongly with both classical and cortical Lewy bodies of this FAF patient. In preliminary experiments similar results were obtained in cases of Parkinson's disease and diffuse Lewy body disease. These observations may indicate a role for gelsolin in the pathogenesis of Parkinson's disease and related conditions.
Haltia
M
M
Department of Pathology, New York University Medical Center, NY 10016.
Ghiso
J
J
Wisniewski
T
T
Kiuru
S
S
Miller
D
D
Frangione
B
B
D000368:Aged; D000544:Alzheimer Disease / Q000378:metabolism / Q000473:pathology*; D016229:Amyloid beta-Peptides / Q000276:immunology / Q000378:metabolism*; D000686:Amyloidosis / Q000473:pathology; D001921:Brain / Q000473:pathology; D002135:Calcium-Binding Proteins / Q000378:metabolism*; D018260:Gelsolin; D006651:Histocytochemistry; D006801:Humans; D016631:Lewy Bodies / Q000276:immunology / Q000378:metabolism*; D008297:Male; D008840:Microfilament Proteins / Q000378:metabolism*
D016229:Amyloid beta-Peptides; D002135:Calcium-Binding Proteins; D018260:Gelsolin; D008840:Microfilament Proteins