A genetically dominant form of NBIA caused by mutations in the FTL gene which encodes the light subunit of the ferritin protein. Ferritin is responsible for iron storage and its release.

Neuroferritinopathy is a NBIA disorder characterized by symptoms that are similar to Huntington disease with adult-onset chorea or dystonia and cognitive (mental) changes.

Movement problems typically affect one or two limbs in the beginning, eventually progress to all the limbs within 5-10 years and can become more generalized within 20 years. Over time, mental decline and behavioral issues become significant problems for individuals with neuroferritinopathy.

The average lifespan varies for individuals with neuroferritinopathy, but due to improvements in medical care, more affected individuals are now living well into late adulthood.

Psychometric, physiotherapy, speech therapy and dietary assessments should be made.

The prevalence is unknown. About 100 cases have been reported and most of these share the same gene change, suggesting they have descended from a common ancestor.


Symptoms of neuroferritinopathy typically start to appear around age 40, but can range from the early teenage years to age 60. It typically starts during adulthood around age 40 with dystonia, jerky movements (chorea), and mild changes in thinking (cognitive effects). Within 20 years it usually begins to affect movement in all the limbs and causes difficulty speaking and resembles Huntington’s disease. Cognitive deficits and behavioral issues become major problems with time.

Common symptoms


MRIs are different from those of other NBIA patients.

Eye movements are well preserved throughout the disease course.

Diagnosis of neuroferritinopathy can be confirmed through genetic testing of the FTL gene to find a gene change in ~80% of cases. Genetic testing is done through sequence analysis.


 There is no standard treatment for neuroferritinopathy. A team of medical professionals recommends treatments based on current symptoms the diagnosed individuals.

The extent of the disease can be determined:

Long-term surveillance


The altered FTL gene inherited in an autosomal dominant manner is the cause of neuroferritinopathy. Autosomal” refers to the fact that the FTL gene is located on chromosome 19. “Dominant” refers to the fact that having a gene change in just one of the two gene copies is enough to cause the disease.

There is a one in two chance (50%) that an affected individual will pass the gene change on to any of his/her children. Most individuals diagnosed with neuroferritinopathy have one parent who is also affected.

The proportion of cases caused by de novo (new) mutations is unknown.

Prenatal Testing

If the disease-causing mutations have been identified in the family, prenatal diagnosis for pregnancies at increased risk can be done. In one test, DNA is extracted from fetal cells obtained by amniocentesis, usually at 15 to 18 weeks’ gestation, and analyzed. Or, sampling is done of the chorionic villus, the tiny finger-like projections on the edge of the placenta, usually at 10 to 12 weeks’ gestation.

Embryo screening, known as preimplantation genetic diagnosis, may be an option for some families in which the disease-causing mutations have been identified.

Please see the link in the right hand column on this page for more detailed clinical information on Neuroferritinopathy at Gene Reviews, which was used as a source for some of the above information. Gene Reviews is primarily for the use of genetics professionals so the terminology and information may be difficult to understand for the general public.

Gene Reviews Author:
Patrick F Chinnery, MBBS, PhD, FRCP, FRCPath, FMedSci

Institute of Human Genetics

University of Newcastle upon Tyne

Newcastle upon Tyne, United Kingdom