title: Cerebral hemorrhages in CADASIL: report of four cases and a brief review.
abstract: BACKGROUND
  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebral small vessel disease, clinically characterized by migraine, recurrent transient ischemic attacks or strokes, psychiatric disorders and cognitive decline. Strokes are typically ischemic, while hemorrhagic events have been only sporadically described. However, cerebral microbleeds have been found in 31-69% of CADASIL patients.
  
  
  METHODS
  We describe four unrelated CADASIL patients who had hemorrhagic strokes. We also briefly review the literature on intracerebral hemorrhage (ICH) in CADASIL.
  
  
  RESULTS
  Three patients had a thalamo-capsular hemorrhage (age at onset: 54, 67, 77) and one of these had a second hemispheric cerebellar hemorrhage. Another patient experienced an interpeduncular cistern subarachnoid hemorrhage when he was 39. None of these patients was receiving antiplatelets, anticoagulants or statins at the time of hemorrhage; all were hypertensive. NOTCH3 gene analysis revealed mutations on exons 14, 22 (two patients presenting the same mutation), and 24. MRI signs of previous hemorrhages were present in all these patients.
  
  
  CONCLUSIONS
  Hemorrhagic stroke can occur in CADASIL similarly to sporadic cerebral small vessel diseases; this finding expands the phenotype of the disease. A diagnosis of CADASIL should probably be considered also in patients with ICH. These data bear potential implications in terms of need of better control of risk factors, particularly hypertension, and raise relevant questions about the use of antiplatelets as prevention measures in CADASIL patients.
authors: Department of Neurological and Psychiatric Sciences, University of Florence, Italy.
authors: Valentina
authors: V
authors: Rinnoci
authors: Serena
authors: S
authors: Nannucci
authors: Raffaella
authors: R
authors: Valenti
authors: Ida
authors: I
authors: Donnini
authors: Silvia
authors: S
authors: Bianchi
authors: Francesca
authors: F
authors: Pescini
authors: Maria Teresa
authors: MT
authors: Dotti
authors: Antonio
authors: A
authors: Federico
authors: Domenico
authors: D
authors: Inzitari
authors: Leonardo
authors: L
authors: Pantoni
mesh_terms: D000328:Adult; D000368:Aged; D046589:CADASIL / Q000150:complications* / Q000235:genetics; D005260:Female; D006429:Hemiplegia / Q000209:etiology; D006801:Humans; D020772:Internal Capsule / Q000473:pathology; D020300:Intracranial Hemorrhages / Q000209:etiology* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics / Q000502:physiology; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics; D020521:Stroke / Q000209:etiology; D013345:Subarachnoid Hemorrhage / Q000209:etiology; D013788:Thalamus / Q000473:pathology; D014057:Tomography, X-Ray Computed
chemical_list: C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch