A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination

A new mouse model of Canavan leukodystrophy displays hearing impairment due to central nervous system dysmyelination

Canavan disease is a leukodystrophy caused by mutations in the ASPA gene. This gene encodes the enzyme that converts N-acetylaspartate into acetate and aspartic acid. In Canavan disease, spongiform encephalopathy of the brain causes progressive mental retardation, motor deficit and death. We have isolated a mouse with a novel ethylnitrosourea-induced mutation in Aspa. This mutant, named deaf14,...

Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophy.

Arylsulfatase A (ASA) catalyzes the desulfation of sulfatide, a major lipid component of myelin. Inherited functional deficiencies of ASA cause the lysosomal storage disease (LSD) metachromatic leukodystrophy (MLD), which is characterized by intralysosomal accumulation of sulfatide, progressive neurological symptoms and early death. Enzyme replacement therapy (ERT) using intravenous injection o...

HYPERVITAMINOSIS A-INDUCED CENTRAL NERVOUS SYSTEM DEFECTS

In this investigation the effects of excess vitamin A administration during the early embryonic period were studied. Intramuscular injection of a single dose of 15000,20000 or 25000 IU/kg vitamin A to pregnant Balb/c strain mice on either day 7,8,9 or 10 of gestation (vaginal plug= day 0 of gestation) produced major malformations in the central nervous system (CNS) including exencephaly, h...

Is Hemorrhagic Demyelinating Lesions of Central Nervous System a Spectrum?

Hypopituitarism due to central nervous system germinoma: a case report

Germ cell tumors in the central nervous system affect children and adults, the peak incidence is from 10 -19 years of age. Clinical presentation is mainly involving to the location and size of the tumor and the patient age. Endocrine abnormalities are the most common symptom. We presented a case who had hypopituitarism due to central nervous system Germinoma. A 10 years old girl was admitted to...