These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [From gene to disease; amyloid-beta precursor protein gene instrumental in hereditary cerebral amyloid angiopathies].
    Author: Haan J, Bakker E, Bornebroek M, Roos RA.
    Journal: Ned Tijdschr Geneeskd; 2001 Aug 25; 145(34):1639-41. PubMed ID: 11552366.
    Abstract:
    Hereditary cerebral haemorrhage with amyloidosis-Dutch type (HCHWA-D) is an autosomal dominant disease caused by a mutation in the amyloid precursor protein gene on chromosome 21. The disease is characterised by amyloid deposition in cerebral blood vessels, which results in cerebral haemorrhages, leucencephalopathy, dementia and death. In the same gene, mutations have also been found for other rare diseases which also result in dementia and haemorrhages, as well as familial Alzheimer's disease (different mutations in different families). The majority of familial Alzheimer cases, however, are associated with mutations in the PS1 gene (more than 70 different mutations) or the PS2 gene (4 mutations).
    [Abstract] [Full Text] [Related] [New Search]