Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management
Identifieur interne : 000272 ( Main/Exploration ); précédent : 000271; suivant : 000273Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management
Auteurs : Niraj Kumar [Canada] ; Philippe Rizek [Canada] ; Mandar Jog [Canada]Source :
- Tremor and Other Hyperkinetic Movements [ 2160-8288 ] ; 2016.
Abstract
Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by
mutations in the ferritin light chain 1 (
A literature search was performed on Pubmed, for English-language articles, utilizing the terms iron metabolism, neurodegeneration with brain iron accumulation, and NF. The relevant articles were reviewed with a focus on the pathophysiology, clinical presentation, differential diagnoses, and management of NF.
There have been nine reported mutations worldwide in the
NF must be considered in patients presenting clinically as a progressive movement disorder with variable phenotype and imaging evidence of iron deposition within the brain, decreased serum ferritin, and negative genetic testing for other more common movement disorders such as Huntington’s disease. In the absence of a disease-specific treatment, symptomatic drug therapy for specific movement disorders may be used, although with variable success.
Url:
DOI: 10.7916/D8KK9BHF
PubMed: 27022507
PubMed Central: 4795517
Affiliations:
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Neuroferritinopathy: Pathophysiology, Presentation, Differential
Diagnoses and Management</title>
<author><name sortKey="Kumar, Niraj" sort="Kumar, Niraj" uniqKey="Kumar N" first="Niraj" last="Kumar">Niraj Kumar</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Department of Clinical Neurological Sciences, Western University, London, ON, Canada</addr-line>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Clinical Neurological Sciences, Western University, London, ON</wicri:regionArea>
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<author><name sortKey="Rizek, Philippe" sort="Rizek, Philippe" uniqKey="Rizek P" first="Philippe" last="Rizek">Philippe Rizek</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Department of Clinical Neurological Sciences, Western University, London, ON, Canada</addr-line>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Clinical Neurological Sciences, Western University, London, ON</wicri:regionArea>
<wicri:noRegion>ON</wicri:noRegion>
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<author><name sortKey="Jog, Mandar" sort="Jog, Mandar" uniqKey="Jog M" first="Mandar" last="Jog">Mandar Jog</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>Department of Clinical Neurological Sciences, Western University, London, ON, Canada</addr-line>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Clinical Neurological Sciences, Western University, London, ON</wicri:regionArea>
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<series><title level="j">Tremor and Other Hyperkinetic Movements</title>
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<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by
mutations in the ferritin light chain 1 (<italic>FTL1</italic>
) gene
leading to abnormal excessive iron accumulation in the brain, predominantly in the
basal ganglia.</p>
</sec>
<sec><title>Methods</title>
<p>A literature search was performed on Pubmed, for English-language articles,
utilizing the terms iron metabolism, neurodegeneration with brain iron
accumulation, and NF. The relevant articles were reviewed with a focus on the
pathophysiology, clinical presentation, differential diagnoses, and management of
NF.</p>
</sec>
<sec><title>Results</title>
<p>There have been nine reported mutations worldwide in the <italic>FTL1</italic>
gene in 90 patients, the most common mutation being 460InsA. Chorea and dystonia
are the most common presenting symptoms in NF. There are specific features, which
appear to depend upon the genetic mutation. We discuss the occurrence of specific
mutations in various regions along with their associated presenting phenomenology.
We have compared and contrasted the commonly occurring syndromes in the
differential diagnosis of NF to guide the clinician.</p>
</sec>
<sec><title>Discussion</title>
<p>NF must be considered in patients presenting clinically as a progressive movement
disorder with variable phenotype and imaging evidence of iron deposition within
the brain, decreased serum ferritin, and negative genetic testing for other more
common movement disorders such as Huntington’s disease. In the absence of a
disease-specific treatment, symptomatic drug therapy for specific movement
disorders may be used, although with variable success.</p>
</sec>
</div>
</front>
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<biblStruct><analytic><author><name sortKey="Balint, B" uniqKey="Balint B">B Balint</name>
</author>
<author><name sortKey="Bhatia, Kp" uniqKey="Bhatia K">KP Bhatia</name>
</author>
</analytic>
</biblStruct>
<biblStruct><analytic><author><name sortKey="Houlden, H" uniqKey="Houlden H">H Houlden</name>
</author>
<author><name sortKey="Singleton, Ab" uniqKey="Singleton A">AB Singleton</name>
</author>
</analytic>
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</TEI>
<affiliations><list><country><li>Canada</li>
</country>
</list>
<tree><country name="Canada"><noRegion><name sortKey="Kumar, Niraj" sort="Kumar, Niraj" uniqKey="Kumar N" first="Niraj" last="Kumar">Niraj Kumar</name>
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<name sortKey="Jog, Mandar" sort="Jog, Mandar" uniqKey="Jog M" first="Mandar" last="Jog">Mandar Jog</name>
<name sortKey="Rizek, Philippe" sort="Rizek, Philippe" uniqKey="Rizek P" first="Philippe" last="Rizek">Philippe Rizek</name>
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