[Recurrent intraparenchimal haemorrhages in a patient with cerebral amyloidotic angiopathy: description of one autopsy case].
Cerebral amyloidotic angiopathy represents the most frequent cause of lobar haematoma in young patients and represents 5-10% of the non-traumatic cerebral haemorrhages. In the present work, we describe one autoptic case of recurrent cerebral haemorrhages in a 58-year-old woman. Macroscopically in the brain multiple haemorragic areas were present in the right frontal pole, right frontal and temporo-parietal lobes with homolateral ventricular inundation. The histological, histochemical, immunohistochemical, ultrastructural and biomolecular investigations confirmed the presence of amyloid deposits in the middle-size and little-size cerebral arteries. We report, moreover, a novel mutation (Leu705Val) within the Abeta sequence of a AbetaPP in a family with autosomal dominant, recurrent intracerebral hemorrhages beginning in the sixth decade of life.
Gallo
C
C
U.O.A. di Anatomia Patologica ed Istocitopatologia, Ospedale Civile di Ivrea, Ivrea, TO, Italia.
Orlassino
R
R
Vineis
C
C
D000368:Aged; D019943:Amino Acid Substitution; D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D028243:Cerebral Amyloid Angiopathy, Familial / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D002543:Cerebral Hemorrhage / Q000209:etiology* / Q000473:pathology; D003866:Depressive Disorder / Q000150:complications; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006406:Hematoma / Q000209:etiology / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D017354:Point Mutation; D012008:Recurrence; D013064:Speech Disorders / Q000209:etiology; D013406:Suicide, Attempted; D014057:Tomography, X-Ray Computed
D016564:Amyloid beta-Protein Precursor