Neuroferritinopathy is a rare genetic condition for which there is no cure. Recently a BBC report brought to light the condition of four sisters of the same family who living with the condition.
It is a rare brain condition that about 100 people worldwide have and the majority of the affected ones are from the same family line in Cumbria.
What is Neuroferritinopathy?
Neuroferritinopathy is a rare genetic disorder characterized by abnormal iron accumulation in specific regions of the brain, particularly the basal ganglia.
This condition is caused by mutations in the FTL gene, which provides instructions for producing a protein called ferritin light chain. Ferritin is responsible for storing and releasing iron in a controlled manner within cells. Mutations in the FTL gene disrupt ferritin function, leading to excessive iron buildup in the brain.
Symptoms of neuroferritinopathy typically manifest in mid-adulthood and may include movement disorders such as chorea (involuntary, jerky movements), dystonia (involuntary muscle contractions), and parkinsonism (tremors, stiffness, and bradykinesia). Other neurological manifestations may include cognitive decline, psychiatric symptoms, and seizures.
Diagnosis of neuroferritinopathy often involves clinical evaluation, neuroimaging studies (such as MRI scans to assess iron deposition in the brain), and genetic testing to identify mutations in the FTL gene. While there is currently no cure for neuroferritinopathy, treatment focuses on managing symptoms and improving quality of life through medications to alleviate movement disorders and supportive therapies. Ongoing research aims to better understand the underlying mechanisms of the disease and develop targeted therapies to mitigate its progression.
In the report, BBC highlighted the case of 59 year old Liz Taylor who was diagnosed with the condition at the age of 38 and have been the same since then. “Now aged 59, Liz is trapped in her own body. Her mind is still fully active but James can only communicate with her by reading the expressions in her eyes,” the report says.
Liz’s 61 year old sister Heather Gartside is also suffering from the condition. Like her sister, she can barely move and can not longer talk.
The disease was first discovered in Cumbria
As per reports, neuroferritinopathy was first discovered 20 years ago in Cumbria after a British scientist began studying a family there. Professor John Burn from Newcastle University found that all the cases are descended from the same ancestor and the disease was traced back to 18th century in Cumbria from the same ancestor Fletcher Christian.
Drug deferiprone and neuroferritinopathy
Deferiprone, an iron-chelating medication, shows promise in managing neuroferritinopathy, a rare genetic disorder characterized by abnormal iron accumulation in the brain. Studies suggest that deferiprone may help reduce iron overload and alleviate neurological symptoms associated with the condition. By chelating excess iron, deferiprone can potentially mitigate neurodegeneration and improve clinical outcomes in affected individuals. Close monitoring and individualized treatment approaches are essential in managing this complex neurological disorder.
