Recurrent lobar intracerebral hemorrhage in Tangier disease

J Stroke Cerebrovasc Dis. 2012 Nov;21(8):909.e5-6. doi: 10.1016/j.jstrokecerebrovasdis.2011.10.009. Epub 2011 Nov 30.

Abstract

We report a patient with familial α-lipoprotein deficiency (Tangier disease) who presented with recurrent lobar intracerebral hemorrhages and accumulating microbleeds on T*2-weighted magnetic resonance imaging, suggestive of probable cerebral amyloid angiopathy. This case provides new insight into the links between the adenotriphosphate-binding cassette A1 (ABCA1) transporter gene mutation in Tangier disease and apolipoprotein-E expression in the brain and supports further investigation of the potential role of ABCA1 transporter in cerebral amyloid angiopathy.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters / genetics
  • Apolipoproteins E / metabolism
  • Cerebral Amyloid Angiopathy / diagnosis
  • Cerebral Amyloid Angiopathy / etiology*
  • Cerebral Amyloid Angiopathy / metabolism
  • Cerebral Angiography / methods
  • Cerebral Hemorrhage / diagnosis
  • Cerebral Hemorrhage / etiology*
  • Cerebral Hemorrhage / metabolism
  • Diffusion Magnetic Resonance Imaging
  • Female
  • Humans
  • Middle Aged
  • Mutation
  • Recurrence
  • Tangier Disease / complications*
  • Tangier Disease / genetics
  • Tangier Disease / metabolism
  • Tomography, X-Ray Computed

Substances

  • ABCA1 protein, human
  • ATP Binding Cassette Transporter 1
  • ATP-Binding Cassette Transporters
  • Apolipoproteins E