Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.
Identifieur interne : 002D15 ( PubMed/Checkpoint ); précédent : 002D14; suivant : 002D16Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.
Auteurs : Paola Valentino [Italie] ; Grazia Annesi ; Innocenza C. Cir Candiano ; Ferdinanda Annesi ; Donatella Civitelli ; Patrizia Tarantino ; Francesco Naso ; Patrizia Spadafora ; Sara Carrideo ; Elvira V. De Marco ; Domenico Consoli ; Mario Zappia ; Antonio Gambardella ; Aldo QuattroneSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Adult, Amino Acid Substitution (genetics), Arginine (genetics), Brain (pathology), Chromosome Mapping, Female, Genetic Heterogeneity, Genetic Markers (genetics), Genotype, Globus Pallidus (pathology), Humans, Magnetic Resonance Imaging, Male, Microsatellite Repeats, Middle Aged, Neurologic Examination, Nucleotides (genetics), Pantothenate Kinase-Associated Neurodegeneration (diagnosis), Pantothenate Kinase-Associated Neurodegeneration (genetics), Pedigree, Phenotype, Phosphotransferases (Alcohol Group Acceptor) (genetics), Tryptophan (genetics).
- MESH :
- chemical , genetics : Arginine, Genetic Markers, Nucleotides, Phosphotransferases (Alcohol Group Acceptor), Tryptophan.
- diagnosis : Pantothenate Kinase-Associated Neurodegeneration.
- genetics : Amino Acid Substitution, Pantothenate Kinase-Associated Neurodegeneration.
- pathology : Brain, Globus Pallidus.
- Adult, Chromosome Mapping, Female, Genetic Heterogeneity, Genotype, Humans, Magnetic Resonance Imaging, Male, Microsatellite Repeats, Middle Aged, Neurologic Examination, Pedigree, Phenotype.
Abstract
We performed a detailed molecular study in two unrelated families with pantothenate kinase-associated neurodegeneration (PKAN) and the specific magnetic resonance imaging (MRI) eye-of-the-tiger pattern. In the first family with classic PKAN, linkage analysis using polymorphic markers from the PANK2 region ruled out linkage with this locus, and no mutation of the PANK2 gene was found. In the second family with atypical PKAN, we identified a novel homozygous C-to-T transition at nucleotide 1069 of the PANK2 gene, which resulted in an arginine to tryptophane substitution at codon 357. As far as we are aware, this is the first case of classic PKAN with the specific MRI eye-of-the-tiger pattern not carrying a PANK2 mutation. Therefore, the present observation reinforces the notion of the phenotypic and genetic heterogeneity in PKAN.
DOI: 10.1002/mds.20681
PubMed: 16149094
Affiliations:
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De Marco</name></author><author><name sortKey="Consoli, Domenico" sort="Consoli, Domenico" uniqKey="Consoli D" first="Domenico" last="Consoli">Domenico Consoli</name></author><author><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name></author><author><name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1002/mds.20681</idno><idno type="RBID">pubmed:16149094</idno><idno type="pmid">16149094</idno><idno type="wicri:Area/PubMed/Corpus">002E85</idno><idno type="wicri:Area/PubMed/Curation">002E85</idno><idno type="wicri:Area/PubMed/Checkpoint">002D15</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.</title><author><name sortKey="Valentino, Paola" sort="Valentino, Paola" uniqKey="Valentino P" first="Paola" last="Valentino">Paola Valentino</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neurology, University Magna Graecia Catanzaro, Catanzaro, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, University Magna Graecia Catanzaro, Catanzaro</wicri:regionArea><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name></author><author><name sortKey="Cir Candiano, Innocenza C" sort="Cir Candiano, Innocenza C" uniqKey="Cir Candiano I" first="Innocenza C" last="Cir Candiano">Innocenza C. Cir Candiano</name></author><author><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name></author><author><name sortKey="Civitelli, Donatella" sort="Civitelli, Donatella" uniqKey="Civitelli D" first="Donatella" last="Civitelli">Donatella Civitelli</name></author><author><name sortKey="Tarantino, Patrizia" sort="Tarantino, Patrizia" uniqKey="Tarantino P" first="Patrizia" last="Tarantino">Patrizia Tarantino</name></author><author><name sortKey="Naso, Francesco" sort="Naso, Francesco" uniqKey="Naso F" first="Francesco" last="Naso">Francesco Naso</name></author><author><name sortKey="Spadafora, Patrizia" sort="Spadafora, Patrizia" uniqKey="Spadafora P" first="Patrizia" last="Spadafora">Patrizia Spadafora</name></author><author><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name></author><author><name sortKey="De Marco, Elvira V" sort="De Marco, Elvira V" uniqKey="De Marco E" first="Elvira V" last="De Marco">Elvira V. De Marco</name></author><author><name sortKey="Consoli, Domenico" sort="Consoli, Domenico" uniqKey="Consoli D" first="Domenico" last="Consoli">Domenico Consoli</name></author><author><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name></author><author><name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</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>Adult</term><term>Amino Acid Substitution (genetics)</term><term>Arginine (genetics)</term><term>Brain (pathology)</term><term>Chromosome Mapping</term><term>Female</term><term>Genetic Heterogeneity</term><term>Genetic Markers (genetics)</term><term>Genotype</term><term>Globus Pallidus (pathology)</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Nucleotides (genetics)</term><term>Pantothenate Kinase-Associated Neurodegeneration (diagnosis)</term><term>Pantothenate Kinase-Associated Neurodegeneration (genetics)</term><term>Pedigree</term><term>Phenotype</term><term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term><term>Tryptophan (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term><term>Genetic Markers</term><term>Nucleotides</term><term>Phosphotransferases (Alcohol Group Acceptor)</term><term>Tryptophan</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Amino Acid Substitution</term><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Globus Pallidus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Chromosome Mapping</term><term>Female</term><term>Genetic Heterogeneity</term><term>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We performed a detailed molecular study in two unrelated families with pantothenate kinase-associated neurodegeneration (PKAN) and the specific magnetic resonance imaging (MRI) eye-of-the-tiger pattern. In the first family with classic PKAN, linkage analysis using polymorphic markers from the PANK2 region ruled out linkage with this locus, and no mutation of the PANK2 gene was found. In the second family with atypical PKAN, we identified a novel homozygous C-to-T transition at nucleotide 1069 of the PANK2 gene, which resulted in an arginine to tryptophane substitution at codon 357. As far as we are aware, this is the first case of classic PKAN with the specific MRI eye-of-the-tiger pattern not carrying a PANK2 mutation. Therefore, the present observation reinforces the notion of the phenotypic and genetic heterogeneity in PKAN.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16149094</PMID><DateCreated><Year>2006</Year><Month>02</Month><Day>16</Day></DateCreated><DateCompleted><Year>2006</Year><Month>09</Month><Day>25</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>2</Issue><PubDate><Year>2006</Year><Month>Feb</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern.</ArticleTitle><Pagination><MedlinePgn>252-4</MedlinePgn></Pagination><Abstract><AbstractText>We performed a detailed molecular study in two unrelated families with pantothenate kinase-associated neurodegeneration (PKAN) and the specific magnetic resonance imaging (MRI) eye-of-the-tiger pattern. In the first family with classic PKAN, linkage analysis using polymorphic markers from the PANK2 region ruled out linkage with this locus, and no mutation of the PANK2 gene was found. In the second family with atypical PKAN, we identified a novel homozygous C-to-T transition at nucleotide 1069 of the PANK2 gene, which resulted in an arginine to tryptophane substitution at codon 357. As far as we are aware, this is the first case of classic PKAN with the specific MRI eye-of-the-tiger pattern not carrying a PANK2 mutation. Therefore, the present observation reinforces the notion of the phenotypic and genetic heterogeneity in PKAN.</AbstractText><CopyrightInformation>Copyright (c) 2005 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Valentino</LastName><ForeName>Paola</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Institute of Neurology, University Magna Graecia Catanzaro, Catanzaro, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Annesi</LastName><ForeName>Grazia</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Cirò Candiano</LastName><ForeName>Innocenza C</ForeName><Initials>IC</Initials></Author><Author ValidYN="Y"><LastName>Annesi</LastName><ForeName>Ferdinanda</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Civitelli</LastName><ForeName>Donatella</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Tarantino</LastName><ForeName>Patrizia</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Naso</LastName><ForeName>Francesco</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Spadafora</LastName><ForeName>Patrizia</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Carrideo</LastName><ForeName>Sara</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>De Marco</LastName><ForeName>Elvira V</ForeName><Initials>EV</Initials></Author><Author ValidYN="Y"><LastName>Consoli</LastName><ForeName>Domenico</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Zappia</LastName><ForeName>Mario</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Gambardella</LastName><ForeName>Antonio</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Quattrone</LastName><ForeName>Aldo</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009711">Nucleotides</NameOfSubstance></Chemical><Chemical><RegistryNumber>8DUH1N11BX</RegistryNumber><NameOfSubstance UI="D014364">Tryptophan</NameOfSubstance></Chemical><Chemical><RegistryNumber>94ZLA3W45F</RegistryNumber><NameOfSubstance UI="D001120">Arginine</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.1.-</RegistryNumber><NameOfSubstance UI="D017853">Phosphotransferases (Alcohol Group Acceptor)</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.1.33</RegistryNumber><NameOfSubstance UI="C023088">pantothenate kinase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019943">Amino Acid Substitution</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001120">Arginine</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001921">Brain</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002874">Chromosome Mapping</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D018740">Genetic Heterogeneity</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005819">Genetic Markers</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005917">Globus Pallidus</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018895">Microsatellite Repeats</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009460">Neurologic Examination</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009711">Nucleotides</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006211">Pantothenate Kinase-Associated Neurodegeneration</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010375">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017853">Phosphotransferases (Alcohol Group Acceptor)</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014364">Tryptophan</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>9</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>9</Month><Day>26</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2005</Year><Month>9</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.20681</ArticleId><ArticleId IdType="pubmed">16149094</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Italie</li></country></list><tree><noCountry><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name><name sortKey="Cir Candiano, Innocenza C" sort="Cir Candiano, Innocenza C" uniqKey="Cir Candiano I" first="Innocenza C" last="Cir Candiano">Innocenza C. Cir Candiano</name><name sortKey="Civitelli, Donatella" sort="Civitelli, Donatella" uniqKey="Civitelli D" first="Donatella" last="Civitelli">Donatella Civitelli</name><name sortKey="Consoli, Domenico" sort="Consoli, Domenico" uniqKey="Consoli D" first="Domenico" last="Consoli">Domenico Consoli</name><name sortKey="De Marco, Elvira V" sort="De Marco, Elvira V" uniqKey="De Marco E" first="Elvira V" last="De Marco">Elvira V. De Marco</name><name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name><name sortKey="Naso, Francesco" sort="Naso, Francesco" uniqKey="Naso F" first="Francesco" last="Naso">Francesco Naso</name><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><name sortKey="Spadafora, Patrizia" sort="Spadafora, Patrizia" uniqKey="Spadafora P" first="Patrizia" last="Spadafora">Patrizia Spadafora</name><name sortKey="Tarantino, Patrizia" sort="Tarantino, Patrizia" uniqKey="Tarantino P" first="Patrizia" last="Tarantino">Patrizia Tarantino</name><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name></noCountry><country name="Italie"><noRegion><name sortKey="Valentino, Paola" sort="Valentino, Paola" uniqKey="Valentino P" first="Paola" last="Valentino">Paola Valentino</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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