Læknablaðið : fylgirit - 01.05.2002, Page 38

ABSTRACTS / 33RD SNC & 2ND SCNN
protein was isolated and characterized as the proteinase inhibitor
cystatin C in a mutated form (L68Q) and the disorder received its
present name Hereditary cystatm C amyloid angiopathy (HCCAA).
Later (1989) it was recognized that cystatin C amyloid was not
restricted to the central nervous system but present in many
internal organs. It would thus not be inappropriate to name the
disease Hereditary cystatin C amyloidosis (HCCA).
Material and methods: This presentation is based on a study by
conventional histological, immunohistological and transmission
electron microscopic methods on material from 43 autopsied
patients, 25 females and 18 males and cell culture of smooth muscle
cells from leptomeningeal arteries of two patients. The average age
at death of the female patients was 32.3 years (range 21-57 years)
and for the males 32.0 years (range 15-62 years).
Pathology: The pathological changes observed in the central nervous
system (CNS) fall into three principal categories: damage of
medium and small arteries by amyloid deposits, hæmorrhagic lesions
and ischæmic lesions. The pathology will be demonstrated and dis-
cussed. Experiments exposing cultured human cerebrovascular
smooth muscle (HCSM) cells to amyloid extracted from leptome-
ningal arteries of patients and electrophoretically verified to be
cystatin C have shown harmful effect on HCSM. This supports our
notion that the damage of the vessel wall is due to toxic effect of the
cystatin C amyloid on smooth muscle cells in the arterial media.
Cystatin C immunoreactive and Congo red positive material is
found in internal organs primarily in three locations: in vascular
smooth muscle and adventitia of arterioles and the perivascular
tissue of lymphatic capillaries and blood capillaries including sinu-
soids; at the interface between surface epithelium, mesothelium
and glandular epithelium and subjacent connective tissue; in peri-
and endoneurial tissue of peripheral nerves.
Conclusions:
• HCCAA is a widespread systemic disorder caused by a point
mutation of the cystatin C gene with subclinical expression in
many tissues of the body and clinical expression in the brain.
• HCCAA is characterized by vascular lesions common to other
cerebral amyloid angiopathies (e.g. beta-amyloid) but is by far
more widespread in the brain, and the cerebral vasculature is
more severely damaged than in most of the amiloid angio-
pathies.
• The deposition of cystatin C amyloid in blood vessels outside the
CNS does not have the catastrophic results it has in the brain.
• The actual source of the mutated amyloidogenic cystatin C is not
known but circumstantial evidence points to the cerebrovascular
smooth muscle cell as both an active participant in its formation
and sufferer from its presence.
• The precise course of events that leads to hæmorrhage in the
brain remains to be elucidated.
67 - Neurological nursing in the Nordic countries
Kirkevold M
Institute of Nursing Science, University of Oslo, Norway
Abstract not received.
68 - Neurology in the Nordic countries
Sigurðsson AP
Dept. of Neurology, Landspítali University Hospital Hringbraut, Reykjavík,
Iceland
Abstract not received.
69 - The future of neurology
Hachinski V
London Health Sciences Centre, University Campus, Canada
Abstract not received.
38 Læknablaðið/Fylgirit 43 2002/88