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.

Last Updated: 3 May 2014

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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: 3 May 2014

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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 13 free, full-text research articles on human participants. First 3 results:

Cortical pencil lining in neuroferritinopathy: a diagnostic clue.
 

Author(s): Amit Batla, Matthew E Adams, Roberto Erro, Christos Ganos, Bettina Balint, Niccolo E Mencacci, Kailash P Bhatia

Journal: Neurology. 2015 Apr;84(17):1816-8.

 

Last Updated: 28 Apr 2015

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Behavioral characterization of mouse models of neuroferritinopathy.
 

Author(s): Sara Capoccia, Federica Maccarinelli, Barbara Buffoli, Luigi F Rodella, Ottavio Cremona, Paolo Arosio, Francesca Cirulli

Journal:

 

Ferritin is the main intracellular protein of iron storage with a central role in the regulation of iron metabolism and detoxification. Nucleotide insertions in the last exon of the ferritin light chain cause a neurodegenerative disease known as Neuroferritinopathy, characterized ...

Last Updated: 18 Feb 2015

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A novel neuroferritinopathy mouse model (FTL 498InsTC) shows progressive brain iron dysregulation, morphological signs of early neurodegeneration and motor coordination deficits.
 

Author(s): Federica Maccarinelli, Antonella Pagani, Anna Cozzi, Franca Codazzi, Giuseppina Di Giacomo, Sara Capoccia, Stefania Rapino, Dario Finazzi, Letterio Salvatore Politi, Francesca Cirulli, Marco Giorgio, Ottavio Cremona, Fabio Grohovaz, Sonia Levi

Journal: Neurobiol. Dis.. 2015 Sep;81():119-33.

 

Neuroferritinopathy is a rare genetic disease with a dominant autosomal transmission caused by mutations of the ferritin light chain gene (FTL). It belongs to Neurodegeneration with Brain Iron Accumulation, a group of disorders where iron dysregulation is tightly associated with neurodegeneration. ...

Last Updated: 6 Nov 2015

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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 1 free, full-text review articles on human participants. First 3 results:

Neuroferritinopathy: From ferritin structure modification to pathogenetic mechanism.
 

Author(s): Sonia Levi, Ermanna Rovida

Journal: Neurobiol. Dis.. 2015 Sep;81():134-43.

 

Neuroferritinopathy is a rare, late-onset, dominantly inherited movement disorder caused by mutations in L-ferritin gene. It is characterized by iron and ferritin aggregate accumulation in brain, normal or low serum ferritin levels and high variable clinical feature. To date, nine ...

Last Updated: 6 Nov 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.