CADASIL or CADVaSIL?
In the present study, morphological examination of patients from two unrelated Polish families with CADASIL was performed. Using light microscopy, there were evident changes characteristic to the disease. On electron microscopy, deposits of granular osmiophillic material (GOM) were found not only in cerebral arteries and veins but also in cerebral capillaries and vessels of the internal organs. These findings indicate that pathological process in CADASIL is generalized and involves also small vessels devoid of smooth muscle cells. Therefore, we propose to consider a replacement for the name CADASIL that better reflects the morphological picture of the disease like, for example, cerebral autosomal dominant vasculopathy with subcortical infarcts and leukoencephalopathy (CADVaSIL) or, to preserve the commonly known acronym, cerebral autosomal dominant angiopathy with subcortical infarcts and leukoencephalopathy.
Rafalowska
Janina
J
Department of Neuropathology, Medical Research Center, Polish Academy of Sciences, Medical University of Warsaw, Warsaw, Poland. ddziewul@amwaw.edu.pl
Fidzianska
Anna
A
Dziewulska
Dorota
D
Podlecka
Aleksandra
A
Szpak
Grazyna Maria
GM
Kwiecinski
Hubert
H
D000328:Adult; D015161:Dementia, Multi-Infarct / Q000145:classification* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014652:Vascular Diseases / Q000145:classification / Q000235:genetics / Q000473:pathology