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Neurodegeneration with Brain Iron Accumulation Type 1

Last updated Dec. 5, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Neurodegeneration with Brain Iron Accumulation Type 1 (NBIA1) is a rare, genetic neurodegenerative disorder (degradation of the nervous system) with excess iron accumulation in the brain.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Hallervorden-Spatz Disease
  • Pantothenate Kinase-Associated Neurodegeneration (PKAN)
  • PKAN (Pantothenate Kinase-Associated Neurodegeneration)

What is Neurodegeneration with Brain Iron Accumulation Type 1? (Definition/Background Information)

  • Neurodegeneration with Brain Iron Accumulation Type 1 (NBIA1) is a rare, genetic neurodegenerative disorder (degradation of the nervous system) with excess iron accumulation in the brain
  • Individuals with the condition have movement, speech, vision, intellectual, and psychiatric abnormalities beginning in the childhood
  • Around 50% of individuals with Neurodegeneration with Brain Iron Accumulation Type 1 have mutation in PKAN2 gene
  • Though not widely available, genetic testing for mutated PKAN2 gene can confirm Neurodegeneration with Brain Iron Accumulation Type 1
  • There is no definitive treatment and prevention of the disorder. The prognosis of Neurodegeneration with Brain Iron Accumulation Type 1 is variable and worse for those with early onset of symptoms

Who gets Neurodegeneration with Brain Iron Accumulation Type 1? (Age and Sex Distribution)

  • Neurodegeneration with Brain Iron Accumulation Type 1 is an extremely rare, inherited disorder. It is estimated that 1 to 3 per million people worldwide are affected by this disorder
  • Both males and females are affected

What are the Risk Factors for Neurodegeneration with Brain Iron Accumulation Type 1? (Predisposing Factors)

  • The only risk factor for Neurodegeneration with Brain Iron Accumulation Type 1 is a positive family history of the disorder 

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Neurodegeneration with Brain Iron Accumulation Type 1? (Etiology)

Neurodegeneration with Brain Iron Accumulation Type 1 is an autosomal recessive disorder with the following characteristics:

  • Around 50% of individuals with NBIA1 have mutation in the PKAN2 gene
  • This gene is responsible for assisting the metabolism of vitamin B5
  • The disorder runs in the family. Both parents have to be either a carrier or affected by the disorder in order for the child to be affected 

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Neurodegeneration with Brain Iron Accumulation Type 1?

Symptoms are visually present by late childhood or early adolescence (teenage years). Common symptoms of Neurodegeneration with Brain Iron Accumulation Type 1 include the following:

  • Loss of side vision
  • Progressive night blindness
  • Muscle spasms (involuntary muscle twitches)
  • Muscle weakness
  • Stiffness of limbs
  • Dystonia: Involuntary muscle contractions that cause repetitive movements or distorted postures
  • Dysphagia (difficulty in swallowing)
  • Dysarthria (difficulty in articulating words)
  • Dementia (loss of mental functions such as thinking, reasoning, and memory)

How is Neurodegeneration with Brain Iron Accumulation Type 1 Diagnosed?

A diagnosis of Neurodegeneration with Brain Iron Accumulation Type 1 may involve:

  • A complete evaluation of medical (family) history and a thorough physical exam
  • Genetic testing for mutated PKAN2 gene can confirm this neurodegenerative disorder; however, the test is not widely available
  • Magnetic resonance imaging (MRI) scans can also be used for individuals expressing symptoms of PKAN2. The healthcare provider will look for mineral iron granules (chunks) in the brain during the MRI study 

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Neurodegeneration with Brain Iron Accumulation Type 1?

Neurodegeneration with Brain Iron Accumulation Type 1 may lead to the following complications:

  • Seizures
  • Cervical myelopathy (disease in the neck bones which interferes with neural transmission from the spinal cord causing various neurological symptoms)
  • Eating difficulties
  • Gastroesophageal reflux (a backflow of food or liquid from the stomach to the esophagus).
  • Chronic constipation
  • Malnutrition, due to various other complications

How is Neurodegeneration with Brain Iron Accumulation Type 1 Treated?

  • Neurodegeneration with Brain Iron Accumulation Type 1 is an extremely difficult disorder to treat
  • Most of the medications, such as dopamine agonists and anticholinergics, help in reducing the symptoms
  • Speech therapy and computer-assisted devices can be used for severe cases

How can Neurodegeneration with Brain Iron Accumulation Type 1 be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Neurodegeneration with Brain Iron Accumulation Type 1, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Neurodegeneration with Brain Iron Accumulation Type 1? (Outcomes/Resolutions)

  • The lifespan for individuals with Neurodegeneration with Brain Iron Accumulation Type 1 is extremely variable
  • A majority of the individuals experience symptoms, such as rigidity, as early as childhood (around age of ten) and die a premature death
  • 25% of the individuals may not notice the symptoms until adolescence, due to the slow progression of the condition
  • An approximate survival rate of individuals with Neurodegeneration with Brain Iron Accumulation Type 1 is 11.2 years

Additional and Relevant Useful Information for Neurodegeneration with Brain Iron Accumulation Type 1:

Iron binding chemicals have been used to slow progression of the disorder; however, there have been no significant successes so far.

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Aug. 4, 2015
Last updated: Dec. 5, 2018