Genetic Test
The GFAP (Glial Fibrillary Acidic Protein) gene encodes a structural protein that plays a crucial role in the development and function of astrocytes, a type of glial cell in the central nervous system that supports and protects neurons.
GFAP is essential for maintaining the integrity of the brain’s internal structure and for responding to injury or disease within neural tissue.
Mutations in the GFAP gene have been associated with Alexander disease, a rare and progressive neurodegenerative disorder affecting the brain and spinal cord.
This genetic test targets a specific GFAP mutation linked to Alexander disease.
Disease Description
Alexander disease is a progressive neurodegenerative disorder caused by the abnormal accumulation of glial fibrillary acidic protein (GFAP) within astrocytes —supporting cells in the brain and spinal cord.
This buildup interferes with the normal function and maintenance of neurons and nerve fibers, gradually disrupting the development and stability of the central nervous system.
As the disease progresses, it can lead to seizures, paralysis, and other neurological impairments.
