Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern
Identifieur interne : 004B83 ( Main/Merge ); précédent : 004B82; suivant : 004B84Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern
Auteurs : Paola Valentino [Italie] ; Grazia Annesi [Italie] ; Innocenza C. Ciro Candiano [Italie] ; Ferdinanda Annesi [Italie] ; Donatella Civitelli [Italie] ; Patrizia Tarantino [Italie] ; Francesco Naso [Italie] ; Patrizia Spadafora [Italie] ; Sara Carrideo [Italie] ; Elvira V. De Marco [Italie] ; Domenico Consoli [Italie] ; Mario Zappia [Italie] ; Antonio Gambardella [Italie] ; Aldo Quattrone [Italie]Source :
- Movement disorders [ 0885-3185 ] ; 2006.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
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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.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Institute of Neurology, University Magna Graecia Catanzaro</s1><s2>Catanzaro</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Ciro Candiano, Innocenza C" sort="Ciro Candiano, Innocenza C" uniqKey="Ciro Candiano I" first="Innocenza C." last="Ciro Candiano">Innocenza C. Ciro Candiano</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Civitelli, Donatella" sort="Civitelli, Donatella" uniqKey="Civitelli D" first="Donatella" last="Civitelli">Donatella Civitelli</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Tarantino, Patrizia" sort="Tarantino, Patrizia" uniqKey="Tarantino P" first="Patrizia" last="Tarantino">Patrizia Tarantino</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Naso, Francesco" sort="Naso, Francesco" uniqKey="Naso F" first="Francesco" last="Naso">Francesco Naso</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Neurologic Clinic, Ospedcue Vibo Valenlia</s1><s3>ITA</s3><sZ>7 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Neurologic Clinic, Ospedcue Vibo Valenlia</wicri:noRegion></affiliation></author><author><name sortKey="Spadafora, Patrizia" sort="Spadafora, Patrizia" uniqKey="Spadafora P" first="Patrizia" last="Spadafora">Patrizia Spadafora</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></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><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Consoli, Domenico" sort="Consoli, Domenico" uniqKey="Consoli D" first="Domenico" last="Consoli">Domenico Consoli</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Neurologic Clinic, Ospedcue Vibo Valenlia</s1><s3>ITA</s3><sZ>7 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Neurologic Clinic, Ospedcue Vibo Valenlia</wicri:noRegion></affiliation></author><author><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology, University Magna Graecia Catanzaro</s1><s2>Catanzaro</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology, University Magna Graecia Catanzaro</s1><s2>Catanzaro</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology, University Magna Graecia Catanzaro</s1><s2>Catanzaro</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">06-0171954</idno><date when="2006">2006</date><idno type="stanalyst">PASCAL 06-0171954 INIST</idno><idno type="RBID">Pascal:06-0171954</idno><idno type="wicri:Area/PascalFrancis/Corpus">001C51</idno><idno type="wicri:Area/PascalFrancis/Curation">001070</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001A88</idno><idno type="wicri:doubleKey">0885-3185:2006:Valentino P:genetic:heterogeneity:in</idno><idno type="wicri:Area/Main/Merge">004B83</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Institute of Neurology, University Magna Graecia Catanzaro</s1><s2>Catanzaro</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Annesi, Grazia" sort="Annesi, Grazia" uniqKey="Annesi G" first="Grazia" last="Annesi">Grazia Annesi</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Ciro Candiano, Innocenza C" sort="Ciro Candiano, Innocenza C" uniqKey="Ciro Candiano I" first="Innocenza C." last="Ciro Candiano">Innocenza C. Ciro Candiano</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Annesi, Ferdinanda" sort="Annesi, Ferdinanda" uniqKey="Annesi F" first="Ferdinanda" last="Annesi">Ferdinanda Annesi</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Civitelli, Donatella" sort="Civitelli, Donatella" uniqKey="Civitelli D" first="Donatella" last="Civitelli">Donatella Civitelli</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Tarantino, Patrizia" sort="Tarantino, Patrizia" uniqKey="Tarantino P" first="Patrizia" last="Tarantino">Patrizia Tarantino</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Naso, Francesco" sort="Naso, Francesco" uniqKey="Naso F" first="Francesco" last="Naso">Francesco Naso</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Neurologic Clinic, Ospedcue Vibo Valenlia</s1><s3>ITA</s3><sZ>7 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Neurologic Clinic, Ospedcue Vibo Valenlia</wicri:noRegion></affiliation></author><author><name sortKey="Spadafora, Patrizia" sort="Spadafora, Patrizia" uniqKey="Spadafora P" first="Patrizia" last="Spadafora">Patrizia Spadafora</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Carrideo, Sara" sort="Carrideo, Sara" uniqKey="Carrideo S" first="Sara" last="Carrideo">Sara Carrideo</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></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><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Consoli, Domenico" sort="Consoli, Domenico" uniqKey="Consoli D" first="Domenico" last="Consoli">Domenico Consoli</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Neurologic Clinic, Ospedcue Vibo Valenlia</s1><s3>ITA</s3><sZ>7 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Neurologic Clinic, Ospedcue Vibo Valenlia</wicri:noRegion></affiliation></author><author><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology, University Magna Graecia Catanzaro</s1><s2>Catanzaro</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Gambardella, Antonio" sort="Gambardella, Antonio" uniqKey="Gambardella A" first="Antonio" last="Gambardella">Antonio Gambardella</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology, University Magna Graecia Catanzaro</s1><s2>Catanzaro</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author><author><name sortKey="Quattrone, Aldo" sort="Quattrone, Aldo" uniqKey="Quattrone A" first="Aldo" last="Quattrone">Aldo Quattrone</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Institute of Neurology, University Magna Graecia Catanzaro</s1><s2>Catanzaro</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Catanzaro</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Neurological Sciences, National Research Council, Piano Logo Mangone</s1><s2>Cosenza</s2><s3>ITA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>8 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>12 aut.</sZ><sZ>13 aut.</sZ><sZ>14 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Cosenza</wicri:noRegion></affiliation></author></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="2006">2006</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>Eye</term><term>Heterogeneity</term><term>Human</term><term>Nervous system diseases</term><term>Nuclear magnetic resonance imaging</term><term>Pantothenate kinase</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Hétérogénéité</term><term>Homme</term><term>Pantothenate kinase</term><term>Imagerie RMN</term><term>Oeil</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</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><affiliations><list><country><li>Italie</li></country></list><tree><country name="Italie"><noRegion><name sortKey="Valentino, Paola" sort="Valentino, Paola" uniqKey="Valentino P" first="Paola" last="Valentino">Paola Valentino</name></noRegion><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="Ciro Candiano, Innocenza C" sort="Ciro Candiano, Innocenza C" uniqKey="Ciro Candiano I" first="Innocenza C." last="Ciro Candiano">Innocenza C. Ciro 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="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="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="Valentino, Paola" sort="Valentino, Paola" uniqKey="Valentino P" first="Paola" last="Valentino">Paola Valentino</name><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name><name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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