Adult-onset basal ganglia disease
Encyclopedia
Adult-onset basal ganglia disease
or neuroferritinopathy is a disorder caused by abnormal iron accumulation in the basal ganglia due to mutations in FTL
gene. The gene codes for the light chain of human ferritin
protein complex that stores intracellular iron, keeping it from harming the body.
The disease was first described in 2001 and is thought to be more common in Cumbria
due to founder effect
.
Basal ganglia disease
Basal ganglia disease refers to a group of physical dysfunctions that occur when the group of nuclei in the brain known as the basal ganglia fail to properly suppress unwanted movements or to properly prime upper motor neuron circuits to initiate motor function. Research indicates that increased...
or neuroferritinopathy is a disorder caused by abnormal iron accumulation in the basal ganglia due to mutations in FTL
Ferritin light chain
Ferritin light chain is a protein that in humans is encoded by the FTL gene.It is abnormally expressed in fetuses of both IVF and ICSI, which may contribute to the increase risk of birth defects in these ART....
gene. The gene codes for the light chain of human ferritin
Ferritin
Ferritin is a ubiquitous intracellular protein that stores iron and releases it in a controlled fashion. The amount of ferritin stored reflects the amount of iron stored. The protein is produced by almost all living organisms, including bacteria, algae and higher plants, and animals...
protein complex that stores intracellular iron, keeping it from harming the body.
The disease was first described in 2001 and is thought to be more common in Cumbria
Cumbria
Cumbria , is a non-metropolitan county in North West England. The county and Cumbria County Council, its local authority, came into existence in 1974 after the passage of the Local Government Act 1972. Cumbria's largest settlement and county town is Carlisle. It consists of six districts, and in...
due to founder effect
Founder effect
In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. It was first fully outlined by Ernst Mayr in 1942, using existing theoretical work by those such as Sewall...
.