<unk>  has an autosomal recessive pattern of inheritance.<unk>  is inherited in an autosomal recessive fashion. When both parents are carriers, the chance of having an affected child is 25%. Genetic counseling and genetic testing are recommended for families with two parental carriers.<unk>  is caused by a defective ASPA gene which is responsible for the production of the enzyme aspartoacylase. Decreased aspartoacylase activity prevents the normal breakdown of N-acetyl aspartate, wherein the accumulation of N-acetylaspartate, or lack of its further metabolism interferes with growth of the myelin sheath of the nerve fibers of the brain. The myelin sheath is the fatty covering that surrounds nerve cells and acts as an insulator, allowing for efficient transmission of nerve impulses.
Canavan disease
Menkes disease
Akureyri disease
CADASIL
White dot syndromes
Keshan disease
Farber disease
Familial British dementia