Glossary
What is Canavan Disease? »
Amniocentesis:
a prenatal test performed during the second trimester of pregnancy to
check for abnormalities in the fetus.
Ashkenazi:
Jews whose ancestors emigrated from eastern and central Europe, particularly
Germany, Poland and Russia. More than 90 percent of Jews in the United
States are of Ashkenazi descent.
Aspartoacyclase
(ASPA): a brain enzyme that is deficient in patients with Canavan
disease and ultimately leads to the spongy condition of the brain’s "white
matter," resulting in the disease’s incapacitating symptoms.
Carriers:
individuals whose genetic makeup carries the potential to pass on to their
children a specific mutated gene that can lead to a disease (such as Canavan),
even though these carriers are not themselves at risk for the disease.
Chorionic
villus sampling (CVS): a prenatal test performed during the first
trimester of pregnancy to check for abnormalities in the fetus.
DNA
(deoxyribonucleic acid) analysis: in
testing for Canavan disease and other genetic disorders, a blood sample
is analyzed to detect any genetic abnormalities found in the DNA, a nucleic
acid that contains the genetic code and transmits the hereditary pattern.
Leukodystrophies:
a group of inherited neurological disorders (such as Canavan) that affect
the growth of the myelin sheath.
Myelin
sheath: the "white matter" of the brain that serves as
an insulator to protect nerves. In Canavan disease, a chemical imbalance
destroys the myelin and causes the "white matter" to become
spongy, resulting in the disease’s incapacitating symptoms
N-acetylaspartic
acid (NAA): a deficiency of the aspartoacylase
enzyme causes this substance (NAA) to accumulate in the brain, resulting
in a chemical imbalance that destroys the myelin
sheath.
Recessive
trait: an inherited trait (such as Canavan disease) that requires
both parents (carriers) to pass on
copies of the abnormal gene to their child. (If only one gene is necessary
to cause a disease--unlike in Canavan disease--the trait is said to be
dominant.)
|