Presenilin-I polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type

Autor:	Egbert Bakker, Joost Haan, C. Van Broeckhoven, M. Bornebroek, H Backhovens, R. A. C. Roos, M.A. van Buchem, P. Deutz, M Van den Broeck
Rok vydání:	1997
Předmět:	Pathology medicine.medical_specialty biology business.industry Amyloid beta Amyloidosis medicine.disease Presenilin Hyperintensity Neurology mental disorders Hereditary cerebral hemorrhage with amyloidosis Genotype medicine biology.protein Dementia Neurology (clinical) business Stroke
Zdroj:	Annals of Neurology. 42:108-110
ISSN:	1531-8249 0364-5134
DOI:	10.1002/ana.410420116
Popis:	Hereditary cerebral hemorrhage with amyloidosis, Dutch type, caused by a mutation at codon 693 of the amyloid beta precursor protein gene, is characterized by amyloid beta deposition resulting in recurrent strokes and dementia. Recent data suggest that presenilin-1 may be biologically linked to cerebral amyloid beta deposition. The intronic presenilin-1 polymorphism published by Wragg and colleagues (1996) was analyzed in 65 carriers of the hereditary cerebral hemorrhage with amyloidosis, Dutch type, mutation. We found that the presenilin-1 genotype was not correlated with age at first stroke, number of recurrences, dementia, and age at death or with white matter hyperintensities and focal lesions on magnetic resonance images. From our data we conclude that amyloid beta deposition in this disease is most likely not influenced by presenilin-1.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::e62456a156d703f61a8c6c44c299f5cb https://doi.org/10.1002/ana.410420116 Zobrazit plný text záznamu Plný text