infantile neuroaxonal dystrophies การใช้

• Children with infantile neuroaxonal dystrophy experience progressive difficulties with movement.
• Mutations in the " PLA2G6 " gene have been identified in most individuals with infantile neuroaxonal dystrophy.
• A few individuals with infantile neuroaxonal dystrophy have not been found to have mutations in the " PLA2G6 " gene.
• In some individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron accumulate in a specific region of the brain called the basal ganglia.
• Infantile neuroaxonal dystrophy is characterized by the development of swellings called spheroid bodies in the axons, the fibers that extend from nerve cells ( neurons ) and transmit impulses to muscles and other neurons.
• Rapid, involuntary eye movements ( nystagmus ), eyes that do not look in the same direction ( strabismus ), and vision loss due to deterioration ( atrophy ) of the optic nerve are characteristic of infantile neuroaxonal dystrophy.
• Although it is unknown how changes in this enzyme's function lead to the signs and symptoms of infantile neuroaxonal dystrophy, phospholipid metabolism problems have been seen in both this disorder and a related disorder called pantothenate kinase-associated neurodegeneration.
• Researchers are studying the links between phospholipid defects, brain iron, and damage to nerve cells, but have not determined how the iron accumulation that occurs in some individuals with infantile neuroaxonal dystrophy may contribute to the features of this disorder.