Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.
Identifieur interne : 002B77 ( PubMed/Checkpoint ); précédent : 002B76; suivant : 002B78Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.
Auteurs : Tsao-Wei Liang [États-Unis] ; Adam C. Truax ; John Q. Trojanowski ; Virginia M-Y Lee ; Matthew B. Stern ; Paul T. KotzbauerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Arginine (genetics), Brain (metabolism), Brain (pathology), DNA Mutational Analysis (methods), Glycine (genetics), Humans, Iron (metabolism), Isoleucine (genetics), Male, Middle Aged, Mutation (genetics), Neurodegenerative Diseases (complications), Neurodegenerative Diseases (genetics), Neurodegenerative Diseases (metabolism), Phosphotransferases (Alcohol Group Acceptor) (deficiency), Phosphotransferases (Alcohol Group Acceptor) (genetics), Tremor (complications), Tremor (genetics), Tremor (metabolism), Valine (genetics).
- MESH :
- chemical , deficiency : Phosphotransferases (Alcohol Group Acceptor).
- chemical , genetics : Arginine, Glycine, Isoleucine, Phosphotransferases (Alcohol Group Acceptor), Valine.
- complications : Neurodegenerative Diseases, Tremor.
- genetics : Mutation, Neurodegenerative Diseases, Tremor.
- metabolism : Brain, Iron, Neurodegenerative Diseases, Tremor.
- methods : DNA Mutational Analysis.
- pathology : Brain.
- Humans, Male, Middle Aged.
Abstract
We describe an atypical case of pantothenate kinase-associated neurodegeneration (PKAN) in which slowly progressive arm tremor was the predominant symptom beginning at the age of 25, with late-onset dystonia and dysarthria developing at the age of 50. Compound heterozygous mutations resulting in missense amino acid substitutions G521R and I529V were identified in the pantothenate kinase (PANK2) gene. We demonstrate that while the G521R mutation results in an unstable and inactive protein, the previously unreported I529V substitution has no apparent effect on the stability or catalytic activity of PanK2. The phenotype that results from this combination of mutations suggests that atypical presentations of PKAN may arise from partial deficits in PanK2 catalytic activity.
DOI: 10.1002/mds.20797
PubMed: 16450344
Affiliations:
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Truax</name></author><author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q" last="Trojanowski">John Q. Trojanowski</name></author><author><name sortKey="Lee, Virginia M Y" sort="Lee, Virginia M Y" uniqKey="Lee V" first="Virginia M-Y" last="Lee">Virginia M-Y Lee</name></author><author><name sortKey="Stern, Matthew B" sort="Stern, Matthew B" uniqKey="Stern M" first="Matthew B" last="Stern">Matthew B. Stern</name></author><author><name sortKey="Kotzbauer, Paul T" sort="Kotzbauer, Paul T" uniqKey="Kotzbauer P" first="Paul T" last="Kotzbauer">Paul T. Kotzbauer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20797</idno><idno type="RBID">pubmed:16450344</idno><idno type="pmid">16450344</idno><idno type="wicri:Area/PubMed/Corpus">002D72</idno><idno type="wicri:Area/PubMed/Curation">002D72</idno><idno type="wicri:Area/PubMed/Checkpoint">002B77</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation.</title><author><name sortKey="Liang, Tsao Wei" sort="Liang, Tsao Wei" uniqKey="Liang T" first="Tsao-Wei" last="Liang">Tsao-Wei Liang</name><affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease Research, Education, and Clinical Center, Philadelphia VA Medical Center and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19107, USA. tsao-wei.liang@jefferson.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Disease Research, Education, and Clinical Center, Philadelphia VA Medical Center and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19107</wicri:regionArea><wicri:noRegion>Pennsylvania 19107</wicri:noRegion></affiliation></author><author><name sortKey="Truax, Adam C" sort="Truax, Adam C" uniqKey="Truax A" first="Adam C" last="Truax">Adam C. Truax</name></author><author><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q" last="Trojanowski">John Q. Trojanowski</name></author><author><name sortKey="Lee, Virginia M Y" sort="Lee, Virginia M Y" uniqKey="Lee V" first="Virginia M-Y" last="Lee">Virginia M-Y Lee</name></author><author><name sortKey="Stern, Matthew B" sort="Stern, Matthew B" uniqKey="Stern M" first="Matthew B" last="Stern">Matthew B. Stern</name></author><author><name sortKey="Kotzbauer, Paul T" sort="Kotzbauer, Paul T" uniqKey="Kotzbauer P" first="Paul T" last="Kotzbauer">Paul T. Kotzbauer</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Arginine (genetics)</term><term>Brain (metabolism)</term><term>Brain (pathology)</term><term>DNA Mutational Analysis (methods)</term><term>Glycine (genetics)</term><term>Humans</term><term>Iron (metabolism)</term><term>Isoleucine (genetics)</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Neurodegenerative Diseases (complications)</term><term>Neurodegenerative Diseases (genetics)</term><term>Neurodegenerative Diseases (metabolism)</term><term>Phosphotransferases (Alcohol Group Acceptor) (deficiency)</term><term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term><term>Tremor (complications)</term><term>Tremor (genetics)</term><term>Tremor (metabolism)</term><term>Valine (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Phosphotransferases (Alcohol Group Acceptor)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term><term>Glycine</term><term>Isoleucine</term><term>Phosphotransferases (Alcohol Group Acceptor)</term><term>Valine</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Neurodegenerative Diseases</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Neurodegenerative Diseases</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Brain</term><term>Iron</term><term>Neurodegenerative Diseases</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We describe an atypical case of pantothenate kinase-associated neurodegeneration (PKAN) in which slowly progressive arm tremor was the predominant symptom beginning at the age of 25, with late-onset dystonia and dysarthria developing at the age of 50. Compound heterozygous mutations resulting in missense amino acid substitutions G521R and I529V were identified in the pantothenate kinase (PANK2) gene. We demonstrate that while the G521R mutation results in an unstable and inactive protein, the previously unreported I529V substitution has no apparent effect on the stability or catalytic activity of PanK2. The phenotype that results from this combination of mutations suggests that atypical presentations of PKAN may arise from partial deficits in PanK2 catalytic activity.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16450344</PMID><DateCreated><Year>2006</Year><Month>05</Month><Day>11</Day></DateCreated><DateCompleted><Year>2006</Year><Month>10</Month><Day>18</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>21</Volume><Issue>5</Issue><PubDate><Year>2006</Year><Month>May</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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The phenotype that results from this combination of mutations suggests that atypical presentations of PKAN may arise from partial deficits in PanK2 catalytic activity.</AbstractText><CopyrightInformation>Copyright (c) 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Liang</LastName><ForeName>Tsao-Wei</ForeName><Initials>TW</Initials><AffiliationInfo><Affiliation>Parkinson's Disease Research, Education, and Clinical Center, Philadelphia VA Medical Center and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19107, USA. tsao-wei.liang@jefferson.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Truax</LastName><ForeName>Adam C</ForeName><Initials>AC</Initials></Author><Author ValidYN="Y"><LastName>Trojanowski</LastName><ForeName>John Q</ForeName><Initials>JQ</Initials></Author><Author ValidYN="Y"><LastName>Lee</LastName><ForeName>Virginia M-Y</ForeName><Initials>VM</Initials></Author><Author ValidYN="Y"><LastName>Stern</LastName><ForeName>Matthew B</ForeName><Initials>MB</Initials></Author><Author ValidYN="Y"><LastName>Kotzbauer</LastName><ForeName>Paul T</ForeName><Initials>PT</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>04Y7590D77</RegistryNumber><NameOfSubstance UI="D007532">Isoleucine</NameOfSubstance></Chemical><Chemical><RegistryNumber>94ZLA3W45F</RegistryNumber><NameOfSubstance 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IdType="doi">10.1002/mds.20797</ArticleId><ArticleId IdType="pubmed">16450344</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Kotzbauer, Paul T" sort="Kotzbauer, Paul T" uniqKey="Kotzbauer P" first="Paul T" last="Kotzbauer">Paul T. Kotzbauer</name><name sortKey="Lee, Virginia M Y" sort="Lee, Virginia M Y" uniqKey="Lee V" first="Virginia M-Y" last="Lee">Virginia M-Y Lee</name><name sortKey="Stern, Matthew B" sort="Stern, Matthew B" uniqKey="Stern M" first="Matthew B" last="Stern">Matthew B. Stern</name><name sortKey="Trojanowski, John Q" sort="Trojanowski, John Q" uniqKey="Trojanowski J" first="John Q" last="Trojanowski">John Q. Trojanowski</name><name sortKey="Truax, Adam C" sort="Truax, Adam C" uniqKey="Truax A" first="Adam C" last="Truax">Adam C. Truax</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Liang, Tsao Wei" sort="Liang, Tsao Wei" uniqKey="Liang T" first="Tsao-Wei" last="Liang">Tsao-Wei Liang</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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