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Neuroferritinopathy


Title




Other Names:
Ferritin-related neurodegeneration; Basal ganglia disease adult-onset
Categories:
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
This disease is grouped under:
Neurodegeneration with brain iron accumulation

Summary Summary


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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

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 53 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Decreased serum ferritin
Low ferritin level
Reduced serum ferritin
[ more ]
0012343
30%-79% of people have these symptoms
Abnormal putamen morphology 0031982
Abnormality of the dentate nucleus 0100321
Bradykinesia
Slow movements
Slowness of movements
[ more ]
0002067
Chorea 0002072
Difficulty walking
Difficulty in walking
0002355
Dysarthria
Difficulty articulating speech
0001260
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ]
0002015
Dysphonia
Inability to produce voice sounds
0001618
Emotional lability
Emotional instability
0000712
Hypomimic face
Dull facial expression
0000338
Iron accumulation in globus pallidus 0012677
Iron accumulation in substantia nigra 0012678
Leg dystonia 0031959
Orofacial dyskinesia 0002310
T2 hypointense thalamus 0012690
5%-29% of people have these symptoms
Arm dystonia 0031960
Blepharospasm
Eyelid spasm
Eyelid twitching
Involuntary closure of eyelid
Spontaneous closure of eyelid
[ more ]
0000643
Brisk reflexes 0001348
Caudate atrophy 0002340
Hyperreflexia in upper limbs 0007350
Impaired smooth pursuit 0007772
Loss of voice 0001686
Lower limb hyperreflexia
Overactive lower leg reflex
0002395
Palatal myoclonus 0010530
Parkinsonism 0001300
Weak voice
Soft voice
0001621
Writer's cramp 0002356
1%-4% of people have these symptoms
Babinski sign 0003487
Frontal lobe dementia 0000727
Increased CSF protein 0002922
Psychosis 0000709
Resting tremor
Tremor at rest
0002322
Subcortical dementia 0007123
Upgaze palsy 0025331
Percent of people who have these symptoms is not available through HPO
Abnormal cerebellum morphology
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ]
0001317
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality
[ more ]
0001939
Anarthria
Loss of articulate speech
0002425
Ataxia 0001251
Autosomal dominant inheritance 0000006
Cavitation of the basal ganglia 0007007
Choreoathetosis 0001266
Disinhibition 0000734
Dyskinesia
Disorder of involuntary muscle movements
0100660
Hyperreflexia
Increased reflexes
0001347
Laryngeal dystonia 0012049
Micrographia 0031908
Mutism
Inability to speak
Muteness
[ more ]
0002300
Neurodegeneration
Ongoing loss of nerve cells
0002180
Progressive
Worsens with time
0003676
Rigidity
Muscle rigidity
0002063
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Tremor 0001337
Showing of 53 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include Huntington disease and spinocerebellar ataxia type 17 (see these terms), although neither has the characteristic findings on neuroimaging; choreoacanthocytosis and McLeod neuroacanthocytosis syndrome (see these terms), although, unlike in these two diseases, the reflexes are preserved in neuroferritinopathy, and juvenile-onset Parkinson disease, aceruloplasminemia and Neimann-Pick type C (see these terms), although these disorders do not show the characteristic neuroimaging of neuroferritinopathy. The MRI findings are similar to those found in pantothenate kinase-associated neurodegeneration (PKAN; see this term). Individuals with neuroferritinopathy also show the 'eye of the tiger'' sign.
Visit the Orphanet disease page for more information.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • NBIA Disorders Association
    2082 Monaco Ct.
    El Cajon, CA 92019-4235
    Telephone: +1-619-588-2315
    Fax: +1-619-588-4093
    E-mail: info@NBIAdisorders.org
    Website: https://www.nbiadisorders.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Neuroferritinopathy. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I was recently diagnosed with neuroferritinopathy. Should I be avoiding foods that are high in iron such as liver, black pudding, cabbage and broccoli? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Neuroferritinopathy. Genetics Home Reference (GHR). July 2008; http://ghr.nlm.nih.gov/condition=neuroferritinopathy. Accessed 9/24/2013.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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