Open AccessQuantitative Vascular Pathology and Phenotyping Familial and Sporadic Cerebral Small Vessel Diseases
Author(s) -
Craggs Lucinda J. L.,
Hagel Christian,
Kuhlenbaeumer Gregor,
BorjessonHanson Anne,
Andersen Oluf,
Viitanen Matti,
Kalimo Hannu,
McLean Catriona A.,
Slade Janet Y.,
Hall Roslyn A.,
Oakley Arthur E.,
Yamamoto Yumi,
Deramecourt Vincent,
Kalaria Rajesh N.
Publication year - 2013
Publication title -
brain pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.986
H-Index - 132
eISSN - 1750-3639
pISSN - 1015-6305
DOI - 10.1111/bpa.12041
Subject(s) - cadasil , leukoencephalopathy , pathology , microangiopathy , white matter , basal ganglia , frontal lobe , medicine , leukoaraiosis , biology , dementia , central nervous system , endocrinology , magnetic resonance imaging , diabetes mellitus , disease , psychiatry , radiology
We quantified vascular changes in the frontal lobe and basal ganglia of four inherited small vessel diseases ( SVDs ) including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy ( CADASIL ), pontine autosomal dominant microangiopathy and leukoencephalopathy ( PADMAL ), hereditary multi‐infarct dementia of S wedish type ( S wedish h MID ), and hereditary endotheliopathy with retinopathy, nephropathy, and stroke ( HERNS ). Vascular pathology was most severe in CADASIL , and varied with marginally greater severity in the basal ganglia compared to the frontal lobe. The overall sclerotic index values in frontal lobe were in the order CADASIL ≥ HERNS > PADMAL > S wedish h MID > sporadic SVD , and in basal ganglia CADASIL > HERNS > S wedish h MID > PADMAL > sporadic SVD . The subcortical white matter was almost always more affected than any gray matter. We observed glucose transporter‐1 ( GLUT ‐1) protein immunoreactivities were most affected in the white matter indicating capillary degeneration whereas collagen IV ( COL 4) immunostaining was increased in PADMAL cases in all regions and tissue types. Overall, GLUT ‐1 : COL 4 ratios were higher in the basal ganglia indicating modifications in capillary density compared to the frontal lobe. Our study shows that the extent of microvascular degeneration varies in these genetic disorders exhibiting common end‐stage pathologies but is the most aggressive in CADASIL .