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Genetic and Rare Diseases Information Center (GARD)

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Neuroferritinopathy


Other Names for this Disease

  • Basal ganglia disease adult-onset
  • Ferritin-related neurodegeneration
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Overview

Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is generally unaffected, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Neuroferritinopathy is caused by mutations in the FTL gene. It is inherited in an autosomal dominant fashion.[1]
Last updated: 9/24/2013

References

  1. Neuroferritinopathy. Genetics Home Reference (GHR). July 2008; http://ghr.nlm.nih.gov/condition=neuroferritinopathy. Accessed 9/24/2013.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Neuroferritinopathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Basal ganglia disease adult-onset
  • Ferritin-related neurodegeneration
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.