Affiliations: [a] Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain
| [b] Nuclear Medicine Department, Hospital Universitario 12 de Octubre, Madrid, Spain
| [c] Group of Neurodegenerative Diseases, Hospital 12 de Octubre Research Institute (i+12), Madrid, Spain
| [d]
Biomedical Research Networking Center in Neurodegenerative Diseases (CIBERNED), Madrid, Spain
| [e]
Complutense University of Madrid, Madrid, Spain
Correspondence:
[*]
Correspondence to: Marta González-Sánchez, MD, Neurology Department, Hospital Universitario 12 de Octubre, Madrid, Spain. Tel.: +34 652361834; E-mail: martags.86@gmail.com.
Note: [1] These authors contributed equally to this work.
Abstract: Hereditary cerebral amyloid angiopathies (CAA) are rare disorders of early onset and severe course. We describe a 47-year-old patient with Iowa-type amyloid precursor protein (APP) mutation-related hereditary CAA that manifested with concomitant lobar hemorrhage and venous sinus thrombosis. To analyze the cerebral amyloid-β burden, an amyloid-PET was performed, demonstrating low cortical retention except for the calcarine cortex. High amyloid retention was also found in the thalamus and pallidum. The co-occurrence of CAA and venous thrombosis has not been previously reported in Iowa CAA and its mechanism is yet to be elucidated. Low cortical florbetapir-PET uptake does not rule out CAA in young patients, who may benefit from genetic testing to reach diagnosis when suspicion is strong.
