CADASIL Together We Have Hope is a organization
established on May 10, 2005. For the full detailed version of the website go to www.cadasilfoundation.org
Dominant Arteriopathy with Subcortical
Infarcts and Leukoencephalopathy
is caused by a mutation (a defect)
in NOTCH3, a gene located on chromosome 19. So far, over
200 different mutations causing the disorder have been identified. NOTCH3 plays
an important role during foetal development as it regulates the formation of different kinds of tissues, for example smooth muscle in the arteriolar wall. The function
the gene later in life is still unknown. CADASIL symptoms result
from changes in the arteriolar wall. Cells in the smooth muscle layer
of the arteriolar walls gradually degenerate, and are replaced by connective
tissue. As a consequence, the arteries thicken and become more rigid, resulting
in decreased blood flow and ischemia. The exchange
of nutrients between blood and tissue is also disturbed. CADASIL typically affects
small branches of long arteries penetrating deep into the white matter of the
brain. The long arteries have few branches and the obstruction of a branch causes
restricted blood flow and oxygen deficiency.
As a consequence, small lacunar infarcts
(diameter less than 20mm) develop in the white matter and in deep parts of the grey matter (the basal ganglia). This is because many blood vessels supply the outermost
brain matter. Infarcts in this area are
to deprive the brain of oxygen and less damage
This is a hereditary familial disease. Its transmission is autosomal dominant, which means that a person already affected by the disease has a 50%
of passing the abnormal gene
to his or her children. In a few known
cases, the mutation
of the Notch3 gene has occurred randomly ("de novo
mutation") without having been transmitted by one of the parents.
It is important
for you to know that there is nothing that you or your family did that caused
you inherit the CADASIL gene. We
have no control over the genes we inherit, just as we have no control over the
genes we pass on to our own children.
headaches are seen in approximately 40% of patients. Most often, the aura is visual and includes a fleeting visual disturbance that takes place prior to the onset of the headache. Migraine
with aura can be the first sign of the disorder in about half of the cases. Severe
migraine with aura may be difficult to distinguish from TIAs.
Most patients (85%) are affected by TIAs or minor strokes.
TRANSIENT ISCHEMIC ATTACK (TIA) is a reversible episode of oxygen
depletion. The attacks are caused by the
occlusion of a small artery leading to
oxygen deficiency that can cause brain
damage. The symptoms are similar to stroke, but are relieved wii hours. T
who have suffered from a MINOR STROKE may
experience speech difficulties, temporary episodes of memory
loss or other cognitive problems sometimes occur.
STROKE is a term for brain hemorrhage and brain infarction.
A stroke occurs when a blood vessel that carries oxygen and nutrients to
the brain is either blocked by a clot or bursts (or ruptures). When that happens,
part of the brain cannot get the blood (and oxygen) it needs, so it and the brain
cells die. After only a few minutes, the cells are irreparably
damaged, a condition known as brain infarct. CADASIL
is slowly progressive, and around half of all individuals with the disease will
suffer several TIAs or strokes. The average patient has two or three significant
lifetime, but the number of strokes can vary considerably.
In the vast
majority of cases, patients affected will present with ischemic episodes, cognitive
defects, migraine like headaches
disturbances. The onset and severity
these symptoms is highly variable, even within families. Cognitive
function worsens slowly over time and
there is variability
in the onset and severity of
cognitive impairment. Patients demonstrate
presence of severe
loss of cognitive function. Seizures, although rare, are observed in affected individuals. Other symptoms may include
speech defects. The overall course
is variable. Early onset of symptoms does
not necessarily mean that the disorder will progress rapidly.
People manage their daily lives for a long time
despite having suffered several strokes. Concentration problems may arise,
and the ability to think clearly declines. Please note: additional symptoms. which are not listed , may occur.
AND PROCEDURES TO AVOID
It is important to tell your doctors that you
have CADASIL so that certain treatments or
tests can be avoided.
*Avoid Thrombolytics and Anticoagulant
Treatments which aim at unblocking blood vessels as
they increase the risk of a cerebral hemorrhage.
*Avoid Vasoconstricting Medicines (issued from rye ergot
or from Triptan) may increase the risk of cerebral infarction.
conventional angiographies (contrast agent within the arteries in the
brain for examination of the cerebral vasculature) should be avoided because of potential neurological complications
(migraine with extended and severe aura).
*Anesthesia must be monitored as it could cause abrupt changes in blood pressure.
you must inform the medical teams about current
medications and the corresponding doses. This precaution will help to
avoid the combinations of incompatible medication and the risk of overdose.
care is needed. Unfortunately at this time there are no interventions that
can effectively prevent the course of CADASIL or its clinical
manifestations. Certain signs and symptoms such as headaches,
migraines, dementia, etc. can be treated as they appear. ClinicalTrials.gov
is a listing of federally and privately
supported clinical trials conducted in the United States
and around the world. This website is a searchable database, that provides patients, family members and the public with information
about current and past clinical research studies on safe and effective medication
TESTING FOR CADASIL
blood test is the most popular to confirm CADASIL. It detects mutations
in the NOTCH3 gene. Only a small amount of blood, which can be taken
from a vein, is needed for this genetic test.
A very small
skin biopsy is easily
performed under local anesthetic. It is important this is processed
in a special way to allow the sample to
be looked at under high magnification using an
electron microscope. Under this magnification, one
can frequently see
of material which
we call GOM
material). If these GOM is present, we can be almost certain that the
individual does have CADASIL. However, the skin biopsy can be negative.
An MRI Alone Cannot Confirm CADASIL
magnetic resonance scan (MRI) is usually performed and shows characteristic appearances with abnormalities
in the deeper parts of the brain or white matter, in the temporal lobe poles. This can be repeated to determine whether the disease
A SPINAL TAP is not actually useful for diagnosis.
research or studies are crucial to providing
a treatment or cure for better quality of life. Keep abreast of the
latest research projects by searching the worldwide web.
Partners Telestroke Center, Boston
Street, WACC 729J
Boston, Massachusetts, 02114 USA
University of Michigan Health System
Floor, Reception C,
1500 E Medical Center Dr SPC 5322,
Michigan, 48109 USA
of Utah Health Care,
Vascular Neurology Clinic,
175 North Medical Drive
Salt Lake City, Utah 84132 USA
Centre de référence des maladies
rares du cerveau et de l’œil (CERVCO)
Service de Neurologie, Hôpital Lariboisière
Telephone: 33 (0)1 49 95 25 91
CADASIL Together We Have Hope
Established May 2005
Rock, TX 78681
512-255-0209 or 1-877-519-HOPE
main website: www.cadasilfoundation.org
the link for this app and forward to your family and friends smartphones.
The information provided on this website is designed to complement, not replace, the relationship between a patient