MovDisordV3, Main, Exploration, bibRecord, 001231

A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral Neuropathy

Identifieur interne : 001231 ( Main/Exploration ); précédent : 001230; suivant : 001232

A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral Neuropathy

Auteurs : Rita Horvath [Royaume-Uni, Allemagne] ; Elke Holinski-Feder [Allemagne] ; Vivienne C. M. Neeve [Royaume-Uni] ; Angela Pyle [Royaume-Uni] ; Helen Griffin [Royaume-Uni] ; Deephthi Ashok [Royaume-Uni] ; Charlotte Foley [Royaume-Uni] ; Gavin Hudson [Royaume-Uni] ; Bernd Rautenstrauss [Allemagne] ; Gudrun Nurnberg [Allemagne] ; Peter Nurnberg [Allemagne] ; Jörg Kortler [Allemagne] ; Birgit Neitzel [Allemagne] ; Ingelore B Ssmann [Allemagne] ; Thahira Rahman [Royaume-Uni] ; Bernard Keavney [Royaume-Uni] ; John Loughlin [Royaume-Uni] ; Sophie Hambleton [Royaume-Uni] ; Benedikt Schoser [Allemagne] ; Hanns Lochmüller [Royaume-Uni] ; Mauro Santibanez-Koref [Royaume-Uni] ; Patrick F. Chinnery [Royaume-Uni]

Source :

Movement disorders [ 0885-3185 ] ; 2012.

RBID : Pascal:12-0248763

Descripteurs français

Pascal (Inist)
- Dystonie, Ataxie optique, Neuropathie optique, Atrophie du nerf optique, Pathologie du système nerveux périphérique, Pathologie du système nerveux, Phénotype, Encéphale, Fer.
Wicri :
- topic : Fer.

English descriptors

KwdEn :
- Dystonia, Encephalon, Iron, Nervous system diseases, Optic ataxia, Optic nerve atrophy, Optic neuropathy, Peripheral nerve disease, Phenotype.

Abstract

Background: Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes. Methods: We performed homozygosity mapping and whole-exome sequencing in 2 brothers with brain iron accumulation from a consanguineous family. Results: We identified a homozygous missense mutation in both brothers in the very recently identified chromosome 19 open-reading frame 12 gene. The disease presented before age 10 with slowly progressive tremor, dystonia, and spasticity. Additional features were optic atrophy, peripheral neuropathy, and learning difficulties. A raised serum creatine kinase indicated neuromuscular involvement, and compensatory mitochondrial proliferation implicated mitochondrial dysfunction as a pathological mechanism. Conclusions: Further studies are needed to explore the function of the chromosome 19 open-reading frame 12 gene, and extended genetic analysis on larger patient cohorts will provide more information about the presentation and frequency of this disease.

Affiliations:

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Le document en format XML

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</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral Neuropathy</title>
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<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</affiliation>
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</affiliation>
</author>
<author><name sortKey="Holinski Feder, Elke" sort="Holinski Feder, Elke" uniqKey="Holinski Feder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Medical Genetics Center Munich</s1>
<s2>Munich</s2>
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<country>Allemagne</country>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Neeve, Vivienne C M" sort="Neeve, Vivienne C M" uniqKey="Neeve V" first="Vivienne C. M." last="Neeve">Vivienne C. M. Neeve</name>
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</affiliation>
</author>
<author><name sortKey="Pyle, Angela" sort="Pyle, Angela" uniqKey="Pyle A" first="Angela" last="Pyle">Angela Pyle</name>
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</author>
<author><name sortKey="Griffin, Helen" sort="Griffin, Helen" uniqKey="Griffin H" first="Helen" last="Griffin">Helen Griffin</name>
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<country>Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Ashok, Deephthi" sort="Ashok, Deephthi" uniqKey="Ashok D" first="Deephthi" last="Ashok">Deephthi Ashok</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
<s2>Newcastle upon Tyne</s2>
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<country>Royaume-Uni</country>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Foley, Charlotte" sort="Foley, Charlotte" uniqKey="Foley C" first="Charlotte" last="Foley">Charlotte Foley</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
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</affiliation>
</author>
<author><name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name>
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</affiliation>
</author>
<author><name sortKey="Rautenstrauss, Bernd" sort="Rautenstrauss, Bernd" uniqKey="Rautenstrauss B" first="Bernd" last="Rautenstrauss">Bernd Rautenstrauss</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Medical Genetics Center Munich</s1>
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</author>
<author><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nurnberg">Gudrun Nurnberg</name>
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<country>Allemagne</country>
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<country>Allemagne</country>
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</author>
<author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nurnberg">Peter Nurnberg</name>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Center for Molecular Medicine Cologne (CMMC), University of Cologne</s1>
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<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne</s1>
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</author>
<author><name sortKey="Kortler, Jorg" sort="Kortler, Jorg" uniqKey="Kortler J" first="Jörg" last="Kortler">Jörg Kortler</name>
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<author><name sortKey="Neitzel, Birgit" sort="Neitzel, Birgit" uniqKey="Neitzel B" first="Birgit" last="Neitzel">Birgit Neitzel</name>
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</author>
<author><name sortKey="B Ssmann, Ingelore" sort="B Ssmann, Ingelore" uniqKey="B Ssmann I" first="Ingelore" last="B Ssmann">Ingelore B Ssmann</name>
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<country>Allemagne</country>
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</author>
<author><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name>
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</author>
<author><name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name>
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</affiliation>
</author>
<author><name sortKey="Loughlin, John" sort="Loughlin, John" uniqKey="Loughlin J" first="John" last="Loughlin">John Loughlin</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Institute of Cellular Medicine, Newcastle University</s1>
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</author>
<author><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Institute of Cellular Medicine, Newcastle University</s1>
<s2>Newcastle upon Tyne</s2>
<s3>GBR</s3>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
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</affiliation>
</author>
<author><name sortKey="Schoser, Benedikt" sort="Schoser, Benedikt" uniqKey="Schoser B" first="Benedikt" last="Schoser">Benedikt Schoser</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilian University Munich</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>19 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
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</affiliation>
</author>
<author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
<s2>Newcastle upon Tyne</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
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<sZ>7 aut.</sZ>
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<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
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<country>Royaume-Uni</country>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name>
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<sZ>1 aut.</sZ>
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<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
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<country>Royaume-Uni</country>
<wicri:noRegion>Newcastle upon Tyne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
<s2>Newcastle upon Tyne</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>3 aut.</sZ>
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<sZ>5 aut.</sZ>
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<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
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<country>Royaume-Uni</country>
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</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term>
<term>Encephalon</term>
<term>Iron</term>
<term>Nervous system diseases</term>
<term>Optic ataxia</term>
<term>Optic nerve atrophy</term>
<term>Optic neuropathy</term>
<term>Peripheral nerve disease</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term>
<term>Ataxie optique</term>
<term>Neuropathie optique</term>
<term>Atrophie du nerf optique</term>
<term>Pathologie du système nerveux périphérique</term>
<term>Pathologie du   système nerveux</term>
<term>Phénotype</term>
<term>Encéphale</term>
<term>Fer</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Fer</term>
</keywords>
</textClass>
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<front><div type="abstract" xml:lang="en">Background: Neurodegeneration with brain iron accumulation is clinically and genetically heterogeneous because of mutations in at least 7 nuclear genes. Methods: We performed homozygosity mapping and whole-exome sequencing in 2 brothers with brain iron accumulation from a consanguineous family. Results: We identified a homozygous missense mutation in both brothers in the very recently identified chromosome 19 open-reading frame 12 gene. The disease presented before age 10 with slowly progressive tremor, dystonia, and spasticity. Additional features were optic atrophy, peripheral neuropathy, and learning difficulties. A raised serum creatine kinase indicated neuromuscular involvement, and compensatory mitochondrial proliferation implicated mitochondrial dysfunction as a pathological mechanism. Conclusions: Further studies are needed to explore the function of the chromosome 19 open-reading frame 12 gene, and extended genetic analysis on larger patient cohorts will provide more information about the presentation and frequency of this disease.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Royaume-Uni</li>
</country>
<region><li>Bavière</li>
<li>District de Haute-Bavière</li>
</region>
<settlement><li>Munich</li>
</settlement>
</list>
<tree><country name="Royaume-Uni"><noRegion><name sortKey="Horvath, Rita" sort="Horvath, Rita" uniqKey="Horvath R" first="Rita" last="Horvath">Rita Horvath</name>
</noRegion>
<name sortKey="Ashok, Deephthi" sort="Ashok, Deephthi" uniqKey="Ashok D" first="Deephthi" last="Ashok">Deephthi Ashok</name>
<name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
<name sortKey="Foley, Charlotte" sort="Foley, Charlotte" uniqKey="Foley C" first="Charlotte" last="Foley">Charlotte Foley</name>
<name sortKey="Griffin, Helen" sort="Griffin, Helen" uniqKey="Griffin H" first="Helen" last="Griffin">Helen Griffin</name>
<name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name>
<name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name>
<name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name>
<name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name>
<name sortKey="Loughlin, John" sort="Loughlin, John" uniqKey="Loughlin J" first="John" last="Loughlin">John Loughlin</name>
<name sortKey="Neeve, Vivienne C M" sort="Neeve, Vivienne C M" uniqKey="Neeve V" first="Vivienne C. M." last="Neeve">Vivienne C. M. Neeve</name>
<name sortKey="Pyle, Angela" sort="Pyle, Angela" uniqKey="Pyle A" first="Angela" last="Pyle">Angela Pyle</name>
<name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name>
<name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name>
</country>
<country name="Allemagne"><region name="Bavière"><name sortKey="Horvath, Rita" sort="Horvath, Rita" uniqKey="Horvath R" first="Rita" last="Horvath">Rita Horvath</name>
</region>
<name sortKey="B Ssmann, Ingelore" sort="B Ssmann, Ingelore" uniqKey="B Ssmann I" first="Ingelore" last="B Ssmann">Ingelore B Ssmann</name>
<name sortKey="Holinski Feder, Elke" sort="Holinski Feder, Elke" uniqKey="Holinski Feder E" first="Elke" last="Holinski-Feder">Elke Holinski-Feder</name>
<name sortKey="Kortler, Jorg" sort="Kortler, Jorg" uniqKey="Kortler J" first="Jörg" last="Kortler">Jörg Kortler</name>
<name sortKey="Neitzel, Birgit" sort="Neitzel, Birgit" uniqKey="Neitzel B" first="Birgit" last="Neitzel">Birgit Neitzel</name>
<name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nurnberg">Gudrun Nurnberg</name>
<name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nurnberg">Gudrun Nurnberg</name>
<name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nurnberg">Gudrun Nurnberg</name>
<name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nurnberg">Peter Nurnberg</name>
<name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nurnberg">Peter Nurnberg</name>
<name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nurnberg">Peter Nurnberg</name>
<name sortKey="Rautenstrauss, Bernd" sort="Rautenstrauss, Bernd" uniqKey="Rautenstrauss B" first="Bernd" last="Rautenstrauss">Bernd Rautenstrauss</name>
<name sortKey="Schoser, Benedikt" sort="Schoser, Benedikt" uniqKey="Schoser B" first="Benedikt" last="Schoser">Benedikt Schoser</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral Neuropathy

A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral Neuropathy

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