Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
  1. Home
  2. Search

Refine search

Refine search

Access:
Content type:
Publication date:
Apply   From and To filters
Subject: Show more
Journals Show more
Publishers: Show more
Societies Show more
Series: Show more
Collections: Show more

Actions for selected content:

Select all | Deselect all
  • View selected items
  • Export citations
  • Download PDF (zip)
  • Save to Kindle
  • Save to Dropbox
  • Save to Google Drive

Save Search

You can save your searches here and later view and run them again in "My saved searches".

Please provide a title, maximum of 40 characters.
Cancel
×

1 results

  • Chapter 5.3 - Chapter

  • from 5 - Hereditary and Genetic Causes of Stroke
  • Edited by Derya Uluduz, Istanbul Üniversitesi
  • Anita Arsovska
  • Book:
    Rare Causes of Stroke
    Published online:
    06 October 2022
    Print publication:
    01 September 2022, pp 267-270

  • Summary

    HDL-C is synthesized in the liver and small intestine and is mainly formed by apolipoprotein A-I (ApoA-I) and apolipoprotein A-II (ApoA-II). The newly secreted ApoA-I must acquire cholesterol or phospholipids in order to form pre-βHDL. This step is mediated by ATP binding cassette transporter A1 (ABCA1). Tangier Disease results from mutations in ABCA1 gene that codes for ABCA1 transporter and is characterized by severe deficiency or absence of HDL-C in the circulation that results in accumulation of cholesteryl esters throughout the body, particularly in the reticuloendothelial system. Tangier Disease was also shown to cause cause central nervous system ischemia, stroke and sometimes bleeding. Even heterozygotes for ABCA1 mutations were shown to have increased carotid intima–media thickness. Also platelet abnormalities, including thrombocytopenia, a mild bleeding tendency, altered platelet morphology, and impaired platelet function, which have been reported in Tangier disease might contribute to bleeding in CNS. We present a 17-year-old female patient with stroke due to Tangier disease