Exploring Neuroferritinopathy: All you need to know about the rare condition

A disease with no cure, neuroferritinopathy affects the brain regions responsible for movement.

A rare genetic disorder characterised by symptoms that typically emerge around the age of 40 and affect the brain regions responsible for movement, is receiving considerable attention. This condition, known as neuroferritinopathy, has impacted around 100 worldwide and the majority of the affected ones are from the same family line in Cumbria.

A disease with no cure, neuroferritinopathy, has gained substantial attention following a recent BBC report highlighting four sisters from the same family living with the condition. The report also discusses a drug trial initiated by Cambridge University to explore whether an existing medication can be repurposed to halt, reverse, or potentially cure the disease in certain patients.

About neuroferritinopathy

Neuroferritinopathy is a disorder characterised by the gradual buildup of iron in the brain. According to the BBC, it is a rare brain condition that confines individuals within their bodies, it predominantly affects descendants of a specific family. This condition impacts specific brain regions, particularly the basal ganglia, which are involved in movement control. Neuroferritinopathy symptoms commonly begin around the age of 40; however, they can occur at any age, from early adolescence to age 60.

This condition arises from mutations in the FTL gene, responsible for encoding a protein known as the ferritin light chain. Within cells, ferritin is in charge of controlling the release and storage of iron. A large amount of iron accumulates in the brain as a result of ferritin function being disrupted by mutations in the FTL gene.

Symptoms

Neuroferritinopathy symptoms usually begin in mid-adulthood and can involve a variety of movement abnormalities such as chorea (involuntary, jerky movements), dystonia (involuntary muscular contractions), and parkinsonism (tremors, rigidity, and bradykinesia). In addition, these symptoms may present more prominently on one side of the body than the other.

Individuals affected by this condition may also experience difficulty with swallowing (dysphagia), speaking (dysarthria), and a gradual decline in cognitive functions such as thinking and reasoning (dementia). As the disorder advances, personality changes such as reduced inhibitions and emotional control difficulties may also become apparent.

Origin of the disease

The origins of neuroferritinopathy were initially identified about 20 years ago in Cumbria when a British scientist began studying a local family. Professor John Burn from Newcastle University discovered that all affected cases in this family are descended from the same ancestor. The disease was traced back to the 18th century in Cumbria, originating from the common ancestor Fletcher Christian.

Management and medication

Although there is currently no cure for neuroferritinopathy, the available treatment primarily focuses on symptom management and enhancing the quality of life through medications to address movement disorders and supportive therapies.

Deferiprone, a medication that chelates iron, shows promise in the management of neuroferritinopathy. Research suggests that deferiprone may reduce iron buildup and alleviate neurological symptoms associated with the condition. By removing excess iron, deferiprone has the potential to combat neurodegeneration and improve clinical outcomes for affected individuals. Furthermore, research is being conducted to enhance the comprehension of disease's causes and develop targeted therapies to slow its progression and manage associated symptoms.