MovDisordV3, Main, Exploration, bibRecord, 003424

Genetic heterogeneity in patients with pantothenate kinase–associated neurodegeneration and classic magnetic resonance imaging eye‐of‐the‐tiger pattern

Identifieur interne : 003424 ( Main/Exploration ); précédent : 003423; suivant : 003425

Genetic 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. Cir 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 ] ; 2006-02.

RBID : ISTEX:BF0995D968CF7751BB6AE5A1AEA2D8E2CC7350A3

Descripteurs français

Pascal (Inist)
- Homme, Hétérogénéité, Imagerie RMN, Oeil, Pantothenate kinase, Système nerveux pathologie.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Adult, Amino Acid Substitution (genetics), Arginine (genetics), Brain (pathology), Chromosome Mapping, Eye, Female, Genetic Heterogeneity, Genetic Markers (genetics), Genotype, Globus Pallidus (pathology), Hallervorden–Spatz syndrome, Heterogeneity, Human, Humans, Magnetic Resonance Imaging, Male, Microsatellite Repeats, Middle Aged, Nervous system diseases, Neurologic Examination, Nuclear magnetic resonance imaging, Nucleotides (genetics), PANK2 gene, Pantothenate Kinase-Associated Neurodegeneration (diagnosis), Pantothenate Kinase-Associated Neurodegeneration (genetics), Pantothenate kinase, Pedigree, Phenotype, Phosphotransferases (Alcohol Group Acceptor) (genetics), Tryptophan (genetics), neurodegeneration.
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. © 2005 Movement Disorder Society

Url:

https://api.istex.fr/document/BF0995D968CF7751BB6AE5A1AEA2D8E2CC7350A3/fulltext/pdf

DOI: 10.1002/mds.20681

Affiliations:

Italie

Le document en format XML

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<term>Amino Acid Substitution (genetics)</term>
<term>Arginine (genetics)</term>
<term>Brain (pathology)</term>
<term>Chromosome Mapping</term>
<term>Eye</term>
<term>Female</term>
<term>Genetic Heterogeneity</term>
<term>Genetic Markers (genetics)</term>
<term>Genotype</term>
<term>Globus Pallidus (pathology)</term>
<term>Hallervorden–Spatz syndrome</term>
<term>Heterogeneity</term>
<term>Human</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Microsatellite Repeats</term>
<term>Middle Aged</term>
<term>Nervous system diseases</term>
<term>Neurologic Examination</term>
<term>Nuclear magnetic resonance imaging</term>
<term>Nucleotides (genetics)</term>
<term>PANK2 gene</term>
<term>Pantothenate Kinase-Associated Neurodegeneration (diagnosis)</term>
<term>Pantothenate Kinase-Associated Neurodegeneration (genetics)</term>
<term>Pantothenate kinase</term>
<term>Pedigree</term>
<term>Phenotype</term>
<term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term>
<term>Tryptophan (genetics)</term>
<term>neurodegeneration</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>
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<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>
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<keywords scheme="Pascal" xml:lang="fr"><term>Homme</term>
<term>Hétérogénéité</term>
<term>Imagerie RMN</term>
<term>Oeil</term>
<term>Pantothenate kinase</term>
<term>Système nerveux pathologie</term>
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<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. © 2005 Movement Disorder Society</div>
</front>
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<tree><country name="Italie"><noRegion><name sortKey="Valentino, Paola" sort="Valentino, Paola" uniqKey="Valentino P" first="Paola" last="Valentino">Paola Valentino</name>
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<name sortKey="Zappia, Mario" sort="Zappia, Mario" uniqKey="Zappia M" first="Mario" last="Zappia">Mario Zappia</name>
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Movement Disorders (revue)

Genetic heterogeneity in patients with pantothenate kinase–associated neurodegeneration and classic magnetic resonance imaging eye‐of‐the‐tiger pattern

Genetic heterogeneity in patients with pantothenate kinase–associated neurodegeneration and classic magnetic resonance imaging eye‐of‐the‐tiger pattern

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	Movement Disorders (revue)
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