MovDisordV3, PascalFrancis, Corpus, bibRecord, 000177

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

Identifieur interne : 000177 ( PascalFrancis/Corpus ); précédent : 000176; suivant : 000178

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

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

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.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A11	`01`	`1`		`@1 HORVATH (Rita)`
A11	`02`	`1`		`@1 HOLINSKI-FEDER (Elke)`
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A20				`@1 789-793`
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A44				`@0 0000 @1 © 2012 INIST-CNRS. All rights reserved.`
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C01	`01`		`ENG`	@0 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.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17H`
C03	`01`	`X`	`FRE`	`@0 Dystonie @5 01`
C03	`01`	`X`	`ENG`	`@0 Dystonia @5 01`
C03	`01`	`X`	`SPA`	`@0 Distonía @5 01`
C03	`02`	`X`	`FRE`	`@0 Ataxie optique @5 02`
C03	`02`	`X`	`ENG`	`@0 Optic ataxia @5 02`
C03	`02`	`X`	`SPA`	`@0 Ataxia óptica @5 02`
C03	`03`	`X`	`FRE`	`@0 Neuropathie optique @2 NM @5 03`
C03	`03`	`X`	`ENG`	`@0 Optic neuropathy @2 NM @5 03`
C03	`03`	`X`	`SPA`	`@0 Neuropatía óptica @2 NM @5 03`
C03	`04`	`X`	`FRE`	`@0 Atrophie du nerf optique @2 NM @5 04`
C03	`04`	`X`	`ENG`	`@0 Optic nerve atrophy @2 NM @5 04`
C03	`04`	`X`	`SPA`	`@0 Atrofia nervio óptico @2 NM @5 04`
C03	`05`	`X`	`FRE`	`@0 Pathologie du système nerveux périphérique @5 05`
C03	`05`	`X`	`ENG`	`@0 Peripheral nerve disease @5 05`
C03	`05`	`X`	`SPA`	`@0 Nervio periférico patología @5 05`
C03	`06`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 06`
C03	`06`	`X`	`ENG`	`@0 Nervous system diseases @5 06`
C03	`06`	`X`	`SPA`	`@0 Sistema nervioso patología @5 06`
C03	`07`	`X`	`FRE`	`@0 Phénotype @5 09`
C03	`07`	`X`	`ENG`	`@0 Phenotype @5 09`
C03	`07`	`X`	`SPA`	`@0 Fenotipo @5 09`
C03	`08`	`X`	`FRE`	`@0 Encéphale @5 10`
C03	`08`	`X`	`ENG`	`@0 Encephalon @5 10`
C03	`08`	`X`	`SPA`	`@0 Encéfalo @5 10`
C03	`09`	`X`	`FRE`	`@0 Fer @2 NC @5 11`
C03	`09`	`X`	`ENG`	`@0 Iron @2 NC @5 11`
C03	`09`	`X`	`SPA`	`@0 Hierro @2 NC @5 11`
C07	`01`	`X`	`FRE`	`@0 Système nerveux central @5 37`
C07	`01`	`X`	`ENG`	`@0 Central nervous system @5 37`
C07	`01`	`X`	`SPA`	`@0 Sistema nervioso central @5 37`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
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C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Mouvement involontaire @5 39`
C07	`03`	`X`	`ENG`	`@0 Involuntary movement @5 39`
C07	`03`	`X`	`SPA`	`@0 Movimiento involuntario @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du muscle strié @5 40`
C07	`04`	`X`	`ENG`	`@0 Striated muscle disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Músculo estriado patología @5 40`
C07	`05`	`X`	`FRE`	`@0 Trouble neurologique @5 42`
C07	`05`	`X`	`ENG`	`@0 Neurological disorder @5 42`
C07	`05`	`X`	`SPA`	`@0 Trastorno neurológico @5 42`
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C07	`06`	`X`	`ENG`	`@0 Cerebral disorder @5 43`
C07	`06`	`X`	`SPA`	`@0 Encéfalo patología @5 43`
C07	`07`	`X`	`FRE`	`@0 Pathologie de l'oeil @5 44`
C07	`07`	`X`	`ENG`	`@0 Eye disease @5 44`
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C07	`09`	`X`	`ENG`	`@0 Cranial nerve disease @5 46`
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Format Inist (serveur)

NO :	PASCAL 12-0248763 INIST
ET :	A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral Neuropathy
AU :	HORVATH (Rita); HOLINSKI-FEDER (Elke); NEEVE (Vivienne C. M.); PYLE (Angela); GRIFFIN (Helen); ASHOK (Deephthi); FOLEY (Charlotte); HUDSON (Gavin); RAUTENSTRAUSS (Bernd); NURNBERG (Gudrun); NURNBERG (Peter); KORTLER (Jörg); NEITZEL (Birgit); BÄSSMANN (Ingelore); RAHMAN (Thahira); KEAVNEY (Bernard); LOUGHLIN (John); HAMBLETON (Sophie); SCHOSER (Benedikt); LOCHMÜLLER (Hanns); SANTIBANEZ-KOREF (Mauro); CHINNERY (Patrick F.)
AF :	Institute of Genetic Medicine, Newcastle University/Newcastle upon Tyne/Royaume-Uni (1 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 15 aut., 16 aut., 20 aut., 21 aut., 22 aut.); Medical Genetics Center Munich/Munich/Allemagne (1 aut., 2 aut., 9 aut., 12 aut., 13 aut.); Cologne Center for Genomics, University of Cologne/Cologne/Allemagne (10 aut., 11 aut., 14 aut.); Center for Molecular Medicine Cologne (CMMC), University of Cologne/Cologne/Allemagne (10 aut., 11 aut.); Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne/Cologne/Allemagne (10 aut., 11 aut.); Institute of Cellular Medicine, Newcastle University/Newcastle upon Tyne/Royaume-Uni (17 aut., 18 aut.); Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilian University Munich/Munich/Allemagne (19 aut.)
DT :	Publication en série; Courte communication, note brève; Niveau analytique
SO :	Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 6; Pp. 789-793; Bibl. 14 ref.
LA :	Anglais
EA :	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.
CC :	002B17; 002B17H
FD :	Dystonie; Ataxie optique; Neuropathie optique; Atrophie du nerf optique; Pathologie du système nerveux périphérique; Pathologie du système nerveux; Phénotype; Encéphale; Fer
FG :	Système nerveux central; Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie de l'oeil; Pathologie du système nerveux central; Pathologie des nerfs crâniens
ED :	Dystonia; Optic ataxia; Optic neuropathy; Optic nerve atrophy; Peripheral nerve disease; Nervous system diseases; Phenotype; Encephalon; Iron
EG :	Central nervous system; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Eye disease; Central nervous system disease; Cranial nerve disease
SD :	Distonía; Ataxia óptica; Neuropatía óptica; Atrofia nervio óptico; Nervio periférico patología; Sistema nervioso patología; Fenotipo; Encéfalo; Hierro
LO :	INIST-20953.354000507771510230
ID :	12-0248763

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Pascal:12-0248763

Le document en format XML

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<author><name sortKey="Kortler, Jorg" sort="Kortler, Jorg" uniqKey="Kortler J" first="Jörg" last="Kortler">Jörg Kortler</name>
<affiliation><inist:fA14 i1="02"><s1>Medical Genetics Center Munich</s1>
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<author><name sortKey="Neitzel, Birgit" sort="Neitzel, Birgit" uniqKey="Neitzel B" first="Birgit" last="Neitzel">Birgit Neitzel</name>
<affiliation><inist:fA14 i1="02"><s1>Medical Genetics Center Munich</s1>
<s2>Munich</s2>
<s3>DEU</s3>
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<author><name sortKey="B Ssmann, Ingelore" sort="B Ssmann, Ingelore" uniqKey="B Ssmann I" first="Ingelore" last="B Ssmann">Ingelore B Ssmann</name>
<affiliation><inist:fA14 i1="03"><s1>Cologne Center for Genomics, University of Cologne</s1>
<s2>Cologne</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>14 aut.</sZ>
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<author><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name>
<affiliation><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
<s2>Newcastle upon Tyne</s2>
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<sZ>1 aut.</sZ>
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<author><name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name>
<affiliation><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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<author><name sortKey="Loughlin, John" sort="Loughlin, John" uniqKey="Loughlin J" first="John" last="Loughlin">John Loughlin</name>
<affiliation><inist:fA14 i1="06"><s1>Institute of Cellular Medicine, Newcastle University</s1>
<s2>Newcastle upon Tyne</s2>
<s3>GBR</s3>
<sZ>17 aut.</sZ>
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</inist:fA14>
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<author><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Schoser, Benedikt" sort="Schoser, Benedikt" uniqKey="Schoser B" first="Benedikt" last="Schoser">Benedikt Schoser</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name>
<affiliation><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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</author>
<author><name sortKey="Santibanez Koref, Mauro" sort="Santibanez Koref, Mauro" uniqKey="Santibanez Koref M" first="Mauro" last="Santibanez-Koref">Mauro Santibanez-Koref</name>
<affiliation><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>4 aut.</sZ>
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</author>
<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F." last="Chinnery">Patrick F. Chinnery</name>
<affiliation><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>4 aut.</sZ>
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<sZ>16 aut.</sZ>
<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>22 aut.</sZ>
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</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">12-0248763</idno>
<date when="2012">2012</date>
<idno type="stanalyst">PASCAL 12-0248763 INIST</idno>
<idno type="RBID">Pascal:12-0248763</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">000177</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral Neuropathy</title>
<author><name sortKey="Horvath, Rita" sort="Horvath, Rita" uniqKey="Horvath R" first="Rita" last="Horvath">Rita Horvath</name>
<affiliation><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>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<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>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="02"><s1>Medical Genetics Center Munich</s1>
<s2>Munich</s2>
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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><inist:fA14 i1="02"><s1>Medical Genetics Center Munich</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
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<sZ>12 aut.</sZ>
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</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>
<affiliation><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>4 aut.</sZ>
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</affiliation>
</author>
<author><name sortKey="Pyle, Angela" sort="Pyle, Angela" uniqKey="Pyle A" first="Angela" last="Pyle">Angela Pyle</name>
<affiliation><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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</affiliation>
</author>
<author><name sortKey="Griffin, Helen" sort="Griffin, Helen" uniqKey="Griffin H" first="Helen" last="Griffin">Helen Griffin</name>
<affiliation><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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</affiliation>
</author>
<author><name sortKey="Ashok, Deephthi" sort="Ashok, Deephthi" uniqKey="Ashok D" first="Deephthi" last="Ashok">Deephthi Ashok</name>
<affiliation><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>4 aut.</sZ>
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</affiliation>
</author>
<author><name sortKey="Foley, Charlotte" sort="Foley, Charlotte" uniqKey="Foley C" first="Charlotte" last="Foley">Charlotte Foley</name>
<affiliation><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>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>
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</affiliation>
</author>
<author><name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name>
<affiliation><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>8 aut.</sZ>
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<sZ>20 aut.</sZ>
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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><inist:fA14 i1="02"><s1>Medical Genetics Center Munich</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
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</affiliation>
</author>
<author><name sortKey="Nurnberg, Gudrun" sort="Nurnberg, Gudrun" uniqKey="Nurnberg G" first="Gudrun" last="Nurnberg">Gudrun Nurnberg</name>
<affiliation><inist:fA14 i1="03"><s1>Cologne Center for Genomics, University of Cologne</s1>
<s2>Cologne</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="04"><s1>Center for Molecular Medicine Cologne (CMMC), University of Cologne</s1>
<s2>Cologne</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne</s1>
<s2>Cologne</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nurnberg">Peter Nurnberg</name>
<affiliation><inist:fA14 i1="03"><s1>Cologne Center for Genomics, University of Cologne</s1>
<s2>Cologne</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="04"><s1>Center for Molecular Medicine Cologne (CMMC), University of Cologne</s1>
<s2>Cologne</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne</s1>
<s2>Cologne</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Kortler, Jorg" sort="Kortler, Jorg" uniqKey="Kortler J" first="Jörg" last="Kortler">Jörg Kortler</name>
<affiliation><inist:fA14 i1="02"><s1>Medical Genetics Center Munich</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
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</affiliation>
</author>
<author><name sortKey="Neitzel, Birgit" sort="Neitzel, Birgit" uniqKey="Neitzel B" first="Birgit" last="Neitzel">Birgit Neitzel</name>
<affiliation><inist:fA14 i1="02"><s1>Medical Genetics Center Munich</s1>
<s2>Munich</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>13 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="B Ssmann, Ingelore" sort="B Ssmann, Ingelore" uniqKey="B Ssmann I" first="Ingelore" last="B Ssmann">Ingelore B Ssmann</name>
<affiliation><inist:fA14 i1="03"><s1>Cologne Center for Genomics, University of Cologne</s1>
<s2>Cologne</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Rahman, Thahira" sort="Rahman, Thahira" uniqKey="Rahman T" first="Thahira" last="Rahman">Thahira Rahman</name>
<affiliation><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>
<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>
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</affiliation>
</author>
<author><name sortKey="Keavney, Bernard" sort="Keavney, Bernard" uniqKey="Keavney B" first="Bernard" last="Keavney">Bernard Keavney</name>
<affiliation><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>4 aut.</sZ>
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<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>
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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><inist:fA14 i1="06"><s1>Institute of Cellular Medicine, Newcastle University</s1>
<s2>Newcastle upon Tyne</s2>
<s3>GBR</s3>
<sZ>17 aut.</sZ>
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</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Hambleton, Sophie" sort="Hambleton, Sophie" uniqKey="Hambleton S" first="Sophie" last="Hambleton">Sophie Hambleton</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Schoser, Benedikt" sort="Schoser, Benedikt" uniqKey="Schoser B" first="Benedikt" last="Schoser">Benedikt Schoser</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name>
<affiliation><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>
<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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</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>
<affiliation><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>
<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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</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><inist:fA14 i1="01"><s1>Institute of Genetic Medicine, Newcastle University</s1>
<s2>Newcastle upon Tyne</s2>
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<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
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<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>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
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</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>
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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>
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<fA11 i1="05" i2="1"><s1>GRIFFIN (Helen)</s1>
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<fA11 i1="06" i2="1"><s1>ASHOK (Deephthi)</s1>
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<fA14 i1="05"><s1>Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne</s1>
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<sZ>18 aut.</sZ>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
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<server><NO>PASCAL 12-0248763 INIST</NO>
<ET>A New Phenotype of Brain Iron Accumulation with Dystonia, Optic Atrophy, and Peripheral Neuropathy</ET>
<AU>HORVATH (Rita); HOLINSKI-FEDER (Elke); NEEVE (Vivienne C. M.); PYLE (Angela); GRIFFIN (Helen); ASHOK (Deephthi); FOLEY (Charlotte); HUDSON (Gavin); RAUTENSTRAUSS (Bernd); NURNBERG (Gudrun); NURNBERG (Peter); KORTLER (Jörg); NEITZEL (Birgit); BÄSSMANN (Ingelore); RAHMAN (Thahira); KEAVNEY (Bernard); LOUGHLIN (John); HAMBLETON (Sophie); SCHOSER (Benedikt); LOCHMÜLLER (Hanns); SANTIBANEZ-KOREF (Mauro); CHINNERY (Patrick F.)</AU>
<AF>Institute of Genetic Medicine, Newcastle University/Newcastle upon Tyne/Royaume-Uni (1 aut., 3 aut., 4 aut., 5 aut., 6 aut., 7 aut., 8 aut., 15 aut., 16 aut., 20 aut., 21 aut., 22 aut.); Medical Genetics Center Munich/Munich/Allemagne (1 aut., 2 aut., 9 aut., 12 aut., 13 aut.); Cologne Center for Genomics, University of Cologne/Cologne/Allemagne (10 aut., 11 aut., 14 aut.); Center for Molecular Medicine Cologne (CMMC), University of Cologne/Cologne/Allemagne (10 aut., 11 aut.); Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne/Cologne/Allemagne (10 aut., 11 aut.); Institute of Cellular Medicine, Newcastle University/Newcastle upon Tyne/Royaume-Uni (17 aut., 18 aut.); Friedrich-Baur Institute, Department of Neurology, Ludwig-Maximilian University Munich/Munich/Allemagne (19 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2012; Vol. 27; No. 6; Pp. 789-793; Bibl. 14 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002B17; 002B17H</CC>
<FD>Dystonie; Ataxie optique; Neuropathie optique; Atrophie du nerf optique; Pathologie du système nerveux périphérique; Pathologie du   système nerveux; Phénotype; Encéphale; Fer</FD>
<FG>Système nerveux central; Syndrome extrapyramidal; Mouvement involontaire; Pathologie du muscle strié; Trouble neurologique; Pathologie de l'encéphale; Pathologie de l'oeil; Pathologie du système nerveux central; Pathologie des nerfs crâniens</FG>
<ED>Dystonia; Optic ataxia; Optic neuropathy; Optic nerve atrophy; Peripheral nerve disease; Nervous system diseases; Phenotype; Encephalon; Iron</ED>
<EG>Central nervous system; Extrapyramidal syndrome; Involuntary movement; Striated muscle disease; Neurological disorder; Cerebral disorder; Eye disease; Central nervous system disease; Cranial nerve disease</EG>
<SD>Distonía; Ataxia óptica; Neuropatía óptica; Atrofia nervio óptico; Nervio periférico patología; Sistema nervioso patología; Fenotipo; Encéfalo; Hierro</SD>
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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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