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Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome

S Alamowitch1, E Plaisier, P Favrole

  • 1Tenon Hospital, Stroke Unit, Department of Neurology, Paris, France. sonia.alamowitch@tnn.aphp.fr

Neurology
|December 2, 2009
PubMed

Insights

Hereditary angiopathy with nephropathy, aneurysm, and muscle cramps (HANAC) syndrome, linked to COL4A1 mutations, presents with cerebral small vessel disease and carotid siphon aneurysms. This differs from familial porencephaly, indicating varied COL4A1 mutation effects.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • COL4A1 mutations are linked to various cerebrovascular disorders, including familial porencephaly and stroke.
  • Hereditary angiopathy with nephropathy, aneurysm, and muscle cramps (HANAC) syndrome is a recently described condition associated with COL4A1 mutations.

Purpose of the Study:

  • To delineate the specific cerebrovascular phenotype associated with HANAC syndrome.

Main Methods:

  • Clinical data from 14 affected individuals across 3 families were gathered.
  • Cerebral imaging (MRI/MRA) was performed on 9 subjects.
  • Skin biopsies were analyzed via electron microscopy.

Main Results:

  • Most subjects (8/9) showed asymptomatic cerebrovascular lesions on MRI/MRA, including cerebral small vessel disease (CSVD) and intracranial aneurysms (5/9) of the carotid siphon.
  • Clinical stroke symptoms were rare (2/14).
  • Skin biopsies revealed basement membrane and arteriolar wall abnormalities.

Conclusions:

  • HANAC syndrome exhibits a cerebrovascular phenotype characterized by CSVD and carotid siphon aneurysms.
  • This phenotype suggests a lower risk of hemorrhagic stroke compared to familial porencephaly.
  • Phenotypic variability in COL4A1-related disorders is significant.
Abstract

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