title: COL4A1 mutation in a patient with sporadic, recurrent intracerebral hemorrhage.
abstract: OBJECTIVE
  Recently COL4A1, a gene encoding the type IV collagen alpha1 chain, has been found to be involved in families with autosomal-dominant porencephaly and infantile hemiparesis. In addition to neonatal stroke, some family members had experienced, during adulthood, spontaneous intracerebral hemorrhages (ICHs) and leukoencephalopathy, suggestive of underlying small-vessel disease of the brain. We now report a patient with sporadic, recurrent ICHs and a novel COL4A1 mutation.
  
  
  METHODS
  We performed a clinical and genetic study of a 25-year-old-patient with an 8-year history of recurrent ICHs.
  
  
  RESULTS
  This young, normotensive patient with a history of infantile hemiparesis had experienced, since the age of 17, recurrent, spontaneous, deep ICHs occurring during sports activities. He became severely disabled. Brain magnetic resonance imaging showed ventricular enlargement, diffuse white-matter abnormalities, and newly appearing, deep, silent microbleeds. Extensive investigations found no cause. There was no family history of stroke or infantile hemiparesis. A novel COL4A1 mutation (G805R) was identified.
  
  
  CONCLUSIONS
  The clinical spectrum of COL4A1 mutations includes recurrent ICHs in association with diffuse leukoencephalopathy in young adults, even in the absence of a family history of infantile hemiparesis or ICH. In addition to birth trauma, anticoagulant use, and head trauma previously reported, sports activities may be a precipitating factor of ICHs in persons with COL4A1 mutations.
authors: AP-HP, Service de Neurologie, Hôpital Lariboisière, Paris, France. katayoun.vahedi@lrb.aphp.fr
authors: Katayoun
authors: K
authors: Vahedi
authors: Nathalie
authors: N
authors: Kubis
authors: Monique
authors: M
authors: Boukobza
authors: Minh
authors: M
authors: Arnoult
authors: Pascale
authors: P
authors: Massin
authors: Elisabeth
authors: E
authors: Tournier-Lasserve
authors: Marie-Germaine
authors: MG
authors: Bousser
mesh_terms: D000328:Adult; D002543:Cerebral Hemorrhage / Q000235:genetics*; D024141:Collagen Type IV / Q000235:genetics*; D006429:Hemiplegia / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D012008:Recurrence
chemical_list: D024141:Collagen Type IV