Adult-Onset Basal Ganglia Disease (Neuroferritinopathy)

Introduction:

The term neuroferritinopathy (NF) is more commonly known as adult-onset basal ganglia disease. Neuroferritinopathy or adult-onset basal ganglia disease is characterized by the accumulation of abnormal amounts of iron in the brain, which results in the damage of the basal ganglia region. This disease arises after the age of 40, hence the name adult-onset basal ganglia disease. Neuroferritinopathy (NF) belongs to a specific group of brain diseases which is neurodegeneration with brain iron accumulation (NBIA). This read covers insight about neuroferritinipathy in general, its other common names, causes, clinical features, diagnosis and treatment.

What Is Adult-Onset Basal Ganglia Disease or Neuroferritinopathy?

Neuroferritinopathy was first discovered in the year 2001 in England. It was diagnosed after a family was known to suffer from inherent damage to basal ganglia due to abnormal iron accumulation in the brain. This condition is characterized by damage to the basal ganglia region in the brain, the region which is responsible for controlled physical movements, and hence the persons affected by NF experience progressive problems associated with physical movements.

What Are the Other Common Names for Adult-Onset Basal Ganglia Disease?

Various other names for adult-onset basal ganglia disease are as follows,

• Ferritin-related neurodegeneration.

• Neuroferritinopathy (NF).

• Hereditary ferritinopathy.

• NBIA3 (neurodegeneration with brain iron accumulation 3).

What Are the Causes of Adult-Onset Basal Ganglia Disease?

Adult-onset basal ganglia disease is an autosomal dominant disease means it is inherited. Mutations in the FTL (ferritin light chain) gene lead to the reduced ability to store iron, resulting in the formation and accumulation of iron in the brain, especially in the basal ganglia region. This region is responsible for the controlled movements of the body, and hence, those affected by this disease are known to have problems regarding physical actions.

How Common Is Adult-Onset Basal Ganglia Disease?

Adult-onset basal ganglia disease is not a very common disease, and only about 100 cases of neuroferritinopathy are known to be reported in medical history up to date.

What Are the Common Signs and Symptoms of Adult-Onset Ganglia Disease?

The average age of onset of adult-onset ganglia disease is 40 years. The signs and symptoms of adult-onset ganglia disease can be categorized as physical and diagnostic signs and symptoms. Some of them are as follows,

Physical Signs and Symptoms:

The physical manifestations of neuroferritinopathy or adult-onset basal ganglia disease are,

• Involuntary muscle twitching or movements are known as chorea.

• Involuntary muscular spasms and contractions.

• The person involved might have muscular pain and might not be able to control the physical movements.

• Usually, the physical signs and symptoms are often confined to one side of the body during the first few years after the onset of the disease.

• Later, the symptoms progress and move to other parts of the body.

• Most people do not experience any intelligence problems. However, some people can experience symptoms like the inability to reason or concentrate.

• The progression of NF is slow where it may ultimately lead to aphonia (inability to speak due to the damages caused to larynx as a result of a disease) and dysphagia (inability to swallow).

Diagnostic Signs and Symptoms:

• The standard diagnostic sign is abnormal iron accumulation in the brain, mainly in the basal ganglia region.

• Degeneration of neurons (brain cells) is also seen.

• Basal ganglia cavitation and neurodegeneration can be noticed.

• Neuronal damage or neuronal death is also evident.

How to Diagnose and Confirm Adult-Onset Basal Ganglia Disease?

In earlier times, all brain iron disorders were clubbed under a single category called pantothenate kinase-associated neurodegeneration called Hallervorden-Spatz syndrome. Later, after knowing the abnormal iron levels, brain iron disorders were categorized under the following three categories,

1. Genetic neurodegeneration with brain iron accumulation.

2. Genetic, systemic iron accumulation with neurologic features.

3. Acquired diseases associated with iron excess or iron deficiency.

Adult-onset basal ganglia disease is categorized under the first category, genetic neurodegeneration with brain iron accumulation.

• Adult-onset basal ganglia disease is often diagnosed in older adults with Parkinson's or Alzheimer's.

• The most commonly used diagnostic method for diagnosing adult-onset basal ganglia disease is MRI (magnetic resonance imaging) techniques.

• MRI imaging helps diagnose abnormal iron deposits in the cerebellum and basal ganglia region.

• MRI scanning technique also diagnoses neuro damage and neuronal death.

• Blood tests do not usually help with diagnosing adult-onset basal ganglia disease. However, In some cases, a decrease in serum iron levels is noticed in the blood tests.

• Ferritin aggregates in skin, kidneys, and muscle tissues can also help diagnose adult-onset basal ganglia disease or neuroferritinopathy (NF).

• Genetic testing can confirm the diagnosis as it shows the mutation of the FTL gene.

How to Treat Adult-Onset Basal Ganglia Disease?

Neuroferritinopathy unfortunately has no cure at present. Also, the progression of this disease cannot be halted entirely as well. Only symptomatic treatments are practiced currently. Some of the commonly used symptomatic therapies are as follows,

• Botox is used widely in treating focal dystonia (involuntary muscle contractions that may lead to twitching of the muscles).

• Other drugs such as Tetrabenazine, a dopamine depleter, is known to help with involuntary movements of the body.

• Symptoms associated with involuntary muscle movements can also be treated with L-Dopa, Orphenadrine, Sulpiride, Clonazepam, Deanol, and Diazepam.

• Iron supplements, if used, should be stopped immediately to stop worsening the disease.

• L-Dopa is not known to help with Parkinson's disease.

Conclusion:

Adult-onset basal ganglia disease or neuroferritinopathy is a genetically inherited disease, and unfortunately, there is no cure for the condition yet. However, recent advances in science have developed many ways to maintain and manage the symptoms associated with adult-onset basal ganglia disease. In addition, diagnosing the condition earlier can help with better treatment and prognosis.