NBPF4
NBPF4: A Genetic Mutation Linked to Progressive Neurodegenerative Disorders
Description
NBPF4 (Neuroblastoma breakpoint family, member 4) is a gene that encodes a protein essential for the proper function of the nervous system. Mutations in this gene lead to a group of rare, inherited neurodegenerative disorders known as NBPF4-related disorders.
These disorders are characterized by a progressive loss of motor function, leading to muscle weakness and stiffness. They can also affect other aspects of the nervous system, such as cognition, behavior, and speech.
Associated Diseases
The most common NBPF4-related disorders are:
- Amyotrophic lateral sclerosis (ALS): A progressive neurodegenerative disorder characterized by weakness and stiffness in the arms, legs, and muscles used for breathing.
- Frontotemporal dementia (FTD): A progressive neurodegenerative disorder that affects the frontal and temporal lobes of the brain, leading to changes in behavior, personality, and language abilities.
- Charcot-Marie-Tooth disease (CMT): A group of inherited disorders that affect the nerves in the arms and legs, causing weakness and muscle atrophy.
Did you Know ?
NBPF4-related disorders are rare, affecting approximately 1 in 100,000 people. However, they are the most common genetic cause of ALS after mutations in the SOD1 gene.
