Neuroferritinopathy

Common Name(s)

Neuroferritinopathy

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.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neuroferritinopathy" for support, advocacy or research.

NBIA Disorders Association

In our drive to find a cure for Neurodegeneration with Brain Iron Accumulation (NBIA), we provide support to families, educate the public and accelerate research with collaborators from around the world.

http://www.NBIAdisorders.org

Last Updated: 12 Jun 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Neuroferritinopathy" for support, advocacy or research.

NBIA Disorders Association

In our drive to find a cure for Neurodegeneration with Brain Iron Accumulation (NBIA), we provide support to families, educate the public and accelerate research with collaborators from around the world.

http://www.NBIAdisorders.org

Last Updated: 12 Jun 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Neuroferritinopathy" returned 8 free, full-text research articles on human participants. First 3 results:

Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate.
 

Author(s): A McNeill, G Gorman, A Khan, R Horvath, A M Blamire, P F Chinnery

Journal: AJNR Am J Neuroradiol. 2012 Oct;33(9):1810-3.

 

Neuroferritinopathy is an autosomal dominant extrapyramidal movement disorder, caused by FTL gene mutations. Iron decreases the MR T2* decay time, therefore increasing the R2* (R2* = 1 /T2*), which correlates with brain tissue iron content. 3T structural and quantitative MR imaging ...

Last Updated: 9 Oct 2012

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The man who could not walk backward: an unusual presentation of neuroferritinopathy.
 

Author(s): Adam J Cassidy, Elizabeth R Williams, Paul Goldsmith, Stuart N Baker, Mark R Baker

Journal: Mov. Disord.. 2011 Feb;26(2):362-4.

 

Last Updated: 17 Mar 2011

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Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation.
 

Author(s): David Devos, P Jissendi Tchofo, Isabelle Vuillaume, Alain Destée, Stephanie Batey, John Burn, Patrick F Chinnery

Journal: Brain. 2009 Jun;132(Pt 6):e109.

 

Last Updated: 26 May 2009

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Neuroferritinopathy" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.