New NBIA subtype
Identifieur interne : 000C77 ( Main/Exploration ); précédent : 000C76; suivant : 000C78New NBIA subtype
Auteurs : Penelope Hogarth ; Allison Gregory ; Michael C. Kruer ; Lynn Sanford ; Wendy Wagoner ; Marvin R. Natowicz ; Robert T. Egel ; S. H. Subramony ; Jennifer G. Goldman ; Elizabeth Berry-Kravis ; Nicola C. Foulds ; Simon R. Hammans ; Isabelle Desguerre ; Diana Rodriguez ; Callum Wilson ; Andrea Diedrich ; Sarah Green ; Huong Tran ; Lindsay Reese ; Randall L. Woltjer ; Susan J. HayflickSource :
- Neurology [ 0028-3878 ] ; 2013.
Abstract
To assess the frequency of mutations in
Samples from 161 individuals with idiopathic NBIA were screened, and
A variety of mutations were detected in this cohort, in addition to the Eastern European founder mutation described previously. The characteristic clinical features of mitochondrial membrane protein-associated neurodegeneration (MPAN) across all age groups include cognitive decline progressing to dementia, prominent neuropsychiatric abnormalities, and a motor neuronopathy. A distinctive pattern of brain iron accumulation is universal. Neuropathologic studies revealed neuronal loss, widespread iron deposits, and eosinophilic spheroidal structures in the basal ganglia. Lewy neurites were present in the globus pallidus, and Lewy bodies and neurites were widespread in other areas of the corpus striatum and midbrain structures.
MPAN is caused by mutations in
Url:
DOI: 10.1212/WNL.0b013e31827e07be
PubMed: 23269600
PubMed Central: 3589182
Affiliations:
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Le document en format XML
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<author><name sortKey="Hogarth, Penelope" sort="Hogarth, Penelope" uniqKey="Hogarth P" first="Penelope" last="Hogarth">Penelope Hogarth</name>
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<author><name sortKey="Gregory, Allison" sort="Gregory, Allison" uniqKey="Gregory A" first="Allison" last="Gregory">Allison Gregory</name>
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<author><name sortKey="Kruer, Michael C" sort="Kruer, Michael C" uniqKey="Kruer M" first="Michael C." last="Kruer">Michael C. Kruer</name>
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<author><name sortKey="Wagoner, Wendy" sort="Wagoner, Wendy" uniqKey="Wagoner W" first="Wendy" last="Wagoner">Wendy Wagoner</name>
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<author><name sortKey="Tran, Huong" sort="Tran, Huong" uniqKey="Tran H" first="Huong" last="Tran">Huong Tran</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">New NBIA subtype</title>
<author><name sortKey="Hogarth, Penelope" sort="Hogarth, Penelope" uniqKey="Hogarth P" first="Penelope" last="Hogarth">Penelope Hogarth</name>
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<author><name sortKey="Gregory, Allison" sort="Gregory, Allison" uniqKey="Gregory A" first="Allison" last="Gregory">Allison Gregory</name>
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<author><name sortKey="Kruer, Michael C" sort="Kruer, Michael C" uniqKey="Kruer M" first="Michael C." last="Kruer">Michael C. Kruer</name>
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<author><name sortKey="Sanford, Lynn" sort="Sanford, Lynn" uniqKey="Sanford L" first="Lynn" last="Sanford">Lynn Sanford</name>
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<author><name sortKey="Wagoner, Wendy" sort="Wagoner, Wendy" uniqKey="Wagoner W" first="Wendy" last="Wagoner">Wendy Wagoner</name>
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<author><name sortKey="Natowicz, Marvin R" sort="Natowicz, Marvin R" uniqKey="Natowicz M" first="Marvin R." last="Natowicz">Marvin R. Natowicz</name>
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<author><name sortKey="Egel, Robert T" sort="Egel, Robert T" uniqKey="Egel R" first="Robert T." last="Egel">Robert T. Egel</name>
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<author><name sortKey="Subramony, S H" sort="Subramony, S H" uniqKey="Subramony S" first="S. H." last="Subramony">S. H. Subramony</name>
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<author><name sortKey="Goldman, Jennifer G" sort="Goldman, Jennifer G" uniqKey="Goldman J" first="Jennifer G." last="Goldman">Jennifer G. Goldman</name>
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<author><name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name>
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<author><name sortKey="Foulds, Nicola C" sort="Foulds, Nicola C" uniqKey="Foulds N" first="Nicola C." last="Foulds">Nicola C. Foulds</name>
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<author><name sortKey="Hammans, Simon R" sort="Hammans, Simon R" uniqKey="Hammans S" first="Simon R." last="Hammans">Simon R. Hammans</name>
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<author><name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name>
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<author><name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
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<author><name sortKey="Wilson, Callum" sort="Wilson, Callum" uniqKey="Wilson C" first="Callum" last="Wilson">Callum Wilson</name>
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<author><name sortKey="Diedrich, Andrea" sort="Diedrich, Andrea" uniqKey="Diedrich A" first="Andrea" last="Diedrich">Andrea Diedrich</name>
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<author><name sortKey="Green, Sarah" sort="Green, Sarah" uniqKey="Green S" first="Sarah" last="Green">Sarah Green</name>
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<author><name sortKey="Tran, Huong" sort="Tran, Huong" uniqKey="Tran H" first="Huong" last="Tran">Huong Tran</name>
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<author><name sortKey="Reese, Lindsay" sort="Reese, Lindsay" uniqKey="Reese L" first="Lindsay" last="Reese">Lindsay Reese</name>
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<series><title level="j">Neurology</title>
<idno type="ISSN">0028-3878</idno>
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<front><div type="abstract" xml:lang="en"><sec><title>Objective:</title>
<p>To assess the frequency of mutations in <italic>C19orf12</italic>
in the greater neurodegeneration with brain iron accumulation (NBIA) population and further characterize the associated phenotype.</p>
</sec>
<sec><title>Methods:</title>
<p>Samples from 161 individuals with idiopathic NBIA were screened, and <italic>C19orf12</italic>
mutations were identified in 23 subjects. Direct examinations were completed on 8 of these individuals, and medical records were reviewed on all 23. Histochemical and immunohistochemical studies were performed on brain tissue from one deceased subject.</p>
</sec>
<sec><title>Results:</title>
<p>A variety of mutations were detected in this cohort, in addition to the Eastern European founder mutation described previously. The characteristic clinical features of mitochondrial membrane protein-associated neurodegeneration (MPAN) across all age groups include cognitive decline progressing to dementia, prominent neuropsychiatric abnormalities, and a motor neuronopathy. A distinctive pattern of brain iron accumulation is universal. Neuropathologic studies revealed neuronal loss, widespread iron deposits, and eosinophilic spheroidal structures in the basal ganglia. Lewy neurites were present in the globus pallidus, and Lewy bodies and neurites were widespread in other areas of the corpus striatum and midbrain structures.</p>
</sec>
<sec><title>Conclusions:</title>
<p>MPAN is caused by mutations in <italic>C19orf12</italic>
leading to NBIA and prominent, widespread Lewy body pathology. The clinical phenotype is recognizable and distinctive, and joins pantothenate kinase–associated neurodegeneration and <italic>PLA2G6</italic>
-associated neurodegeneration as one of the major forms of NBIA.</p>
</sec>
</div>
</front>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Berry Kravis, Elizabeth" sort="Berry Kravis, Elizabeth" uniqKey="Berry Kravis E" first="Elizabeth" last="Berry-Kravis">Elizabeth Berry-Kravis</name>
<name sortKey="Desguerre, Isabelle" sort="Desguerre, Isabelle" uniqKey="Desguerre I" first="Isabelle" last="Desguerre">Isabelle Desguerre</name>
<name sortKey="Diedrich, Andrea" sort="Diedrich, Andrea" uniqKey="Diedrich A" first="Andrea" last="Diedrich">Andrea Diedrich</name>
<name sortKey="Egel, Robert T" sort="Egel, Robert T" uniqKey="Egel R" first="Robert T." last="Egel">Robert T. Egel</name>
<name sortKey="Foulds, Nicola C" sort="Foulds, Nicola C" uniqKey="Foulds N" first="Nicola C." last="Foulds">Nicola C. Foulds</name>
<name sortKey="Goldman, Jennifer G" sort="Goldman, Jennifer G" uniqKey="Goldman J" first="Jennifer G." last="Goldman">Jennifer G. Goldman</name>
<name sortKey="Green, Sarah" sort="Green, Sarah" uniqKey="Green S" first="Sarah" last="Green">Sarah Green</name>
<name sortKey="Gregory, Allison" sort="Gregory, Allison" uniqKey="Gregory A" first="Allison" last="Gregory">Allison Gregory</name>
<name sortKey="Hammans, Simon R" sort="Hammans, Simon R" uniqKey="Hammans S" first="Simon R." last="Hammans">Simon R. Hammans</name>
<name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J." last="Hayflick">Susan J. Hayflick</name>
<name sortKey="Hogarth, Penelope" sort="Hogarth, Penelope" uniqKey="Hogarth P" first="Penelope" last="Hogarth">Penelope Hogarth</name>
<name sortKey="Kruer, Michael C" sort="Kruer, Michael C" uniqKey="Kruer M" first="Michael C." last="Kruer">Michael C. Kruer</name>
<name sortKey="Natowicz, Marvin R" sort="Natowicz, Marvin R" uniqKey="Natowicz M" first="Marvin R." last="Natowicz">Marvin R. Natowicz</name>
<name sortKey="Reese, Lindsay" sort="Reese, Lindsay" uniqKey="Reese L" first="Lindsay" last="Reese">Lindsay Reese</name>
<name sortKey="Rodriguez, Diana" sort="Rodriguez, Diana" uniqKey="Rodriguez D" first="Diana" last="Rodriguez">Diana Rodriguez</name>
<name sortKey="Sanford, Lynn" sort="Sanford, Lynn" uniqKey="Sanford L" first="Lynn" last="Sanford">Lynn Sanford</name>
<name sortKey="Subramony, S H" sort="Subramony, S H" uniqKey="Subramony S" first="S. H." last="Subramony">S. H. Subramony</name>
<name sortKey="Tran, Huong" sort="Tran, Huong" uniqKey="Tran H" first="Huong" last="Tran">Huong Tran</name>
<name sortKey="Wagoner, Wendy" sort="Wagoner, Wendy" uniqKey="Wagoner W" first="Wendy" last="Wagoner">Wendy Wagoner</name>
<name sortKey="Wilson, Callum" sort="Wilson, Callum" uniqKey="Wilson C" first="Callum" last="Wilson">Callum Wilson</name>
<name sortKey="Woltjer, Randall L" sort="Woltjer, Randall L" uniqKey="Woltjer R" first="Randall L." last="Woltjer">Randall L. Woltjer</name>
</noCountry>
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</record>
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