Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden‐Spatz syndrome) and pantothenate kinase‐associated neurodegeneration
Identifieur interne : 003D70 ( Main/Exploration ); précédent : 003D69; suivant : 003D71Clinical heterogeneity of neurodegeneration with brain iron accumulation (Hallervorden‐Spatz syndrome) and pantothenate kinase‐associated neurodegeneration
Auteurs : Madhavi Thomas [États-Unis] ; Susan J. Hayflick [États-Unis] ; Joseph Jankovic [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2004-01.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Fer.
English descriptors
- KwdEn :
- Adolescent, Adult, Age Factors, Aged, Brain (pathology), Child, Child, Preschool, DNA Mutational Analysis, Encephalon, Female, Follow-Up Studies, Gene Expression Regulation, Enzymologic (physiology), Genetic Heterogeneity, Hallervorden Spatz syndrome, Hemosiderosis (diagnosis), Hemosiderosis (genetics), Hemosiderosis (pathology), Heterogeneity, Humans, Infant, Iron, Male, Middle Aged, NBIA, Nervous system diseases, Neurologic Examination, Neurons (pathology), PKAN, Pantothenate Kinase-Associated Neurodegeneration (diagnosis), Pantothenate Kinase-Associated Neurodegeneration (genetics), Pantothenate Kinase-Associated Neurodegeneration (pathology), Pantothenate kinase, Pedigree, Phenotype, Phosphotransferases (Alcohol Group Acceptor) (genetics), brain iron accumulation, neurodegeneration, pantothenate kinase‐associated neurodegeneration.
- MESH :
- chemical , genetics : Phosphotransferases (Alcohol Group Acceptor).
- diagnosis : Hemosiderosis, Pantothenate Kinase-Associated Neurodegeneration.
- genetics : Hemosiderosis, Pantothenate Kinase-Associated Neurodegeneration.
- pathology : Brain, Hemosiderosis, Neurons, Pantothenate Kinase-Associated Neurodegeneration.
- physiology : Gene Expression Regulation, Enzymologic.
- Adolescent, Adult, Age Factors, Aged, Child, Child, Preschool, DNA Mutational Analysis, Female, Follow-Up Studies, Genetic Heterogeneity, Humans, Infant, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype.
Abstract
Hallervorden Spatz syndrome (HSS), also referred to as neurodegeneration with brain iron accumulation (NBIA), is a rare inherited neurodegenerative disorder with childhood, adolescent, or adult onset. Patients with HSS/NBIA have a combination of motor symptoms in the form of dystonia, parkinsonism, choreoathetosis, corticospinal tract involvement, optic atrophy, pigmentary retinopathy, and cognitive impairment. After the recent identification of mutations in the PANK2 gene on chromosome 20p12.3–p13 in some patients with the HSS/NBIA phenotype, the term pantothenate kinase‐associated neurodegeneration (PKAN) has been proposed for this group of disorders. To characterize clinically and genetically HSS/NBIA, we reviewed 34 affected individuals from 10 different families, who satisfied the inclusion criteria for NBIA. Relatives of patients who had clinical, magnetic resonance imaging (MRI), or pathological findings of NBIA were included in the study. Four patients were found to have mutations in the pantothenate kinase 2 (PANK2) gene. We compared the clinical features and MRI findings of those with and without PANK2 mutations. The presence of mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance. Parkinsonism is seen predominantly in adult‐onset patients whereas dystonia seems more frequent in the earlier‐onset cases. The phenotypic heterogeneity observed in our patients supports the notion of genetic heterogeneity in the HSS/NBIA syndrome. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10650
Affiliations:
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Hayflick</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon</wicri:regionArea><placeName><region type="state">Oregon</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Oregon Health and Science University, Portland, Oregon</wicri:regionArea><placeName><region type="state">Oregon</region></placeName></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of and Neurology, Oregon Health and Science University, Portland, Oregon</wicri:regionArea><placeName><region type="state">Oregon</region></placeName></affiliation></author><author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName><placeName><settlement type="city">Houston</settlement><region type="state">Texas</region></placeName><orgName type="university" n="3">Baylor College of Medicine</orgName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2004-01">2004-01</date><biblScope unit="vol">19</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="36">36</biblScope><biblScope unit="page" to="42">42</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">7E98EA9C24936022D2A013763F24C3D85684EA54</idno><idno type="DOI">10.1002/mds.10650</idno><idno type="ArticleID">MDS10650</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Aged</term><term>Brain (pathology)</term><term>Child</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Encephalon</term><term>Female</term><term>Follow-Up Studies</term><term>Gene Expression Regulation, Enzymologic (physiology)</term><term>Genetic Heterogeneity</term><term>Hallervorden Spatz syndrome</term><term>Hemosiderosis (diagnosis)</term><term>Hemosiderosis (genetics)</term><term>Hemosiderosis (pathology)</term><term>Heterogeneity</term><term>Humans</term><term>Infant</term><term>Iron</term><term>Male</term><term>Middle Aged</term><term>NBIA</term><term>Nervous system diseases</term><term>Neurologic Examination</term><term>Neurons (pathology)</term><term>PKAN</term><term>Pantothenate Kinase-Associated Neurodegeneration (diagnosis)</term><term>Pantothenate Kinase-Associated Neurodegeneration (genetics)</term><term>Pantothenate Kinase-Associated Neurodegeneration (pathology)</term><term>Pantothenate kinase</term><term>Pedigree</term><term>Phenotype</term><term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term><term>brain iron accumulation</term><term>neurodegeneration</term><term>pantothenate kinase‐associated neurodegeneration</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Phosphotransferases (Alcohol Group Acceptor)</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hemosiderosis</term><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hemosiderosis</term><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Hemosiderosis</term><term>Neurons</term><term>Pantothenate Kinase-Associated Neurodegeneration</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Gene Expression Regulation, Enzymologic</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Aged</term><term>Child</term><term>Child, Preschool</term><term>DNA Mutational Analysis</term><term>Female</term><term>Follow-Up Studies</term><term>Genetic Heterogeneity</term><term>Humans</term><term>Infant</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Encéphale</term><term>Fer</term><term>Hétérogénéité</term><term>Pantothenate kinase</term><term>Système nerveux pathologie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Fer</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Hallervorden Spatz syndrome (HSS), also referred to as neurodegeneration with brain iron accumulation (NBIA), is a rare inherited neurodegenerative disorder with childhood, adolescent, or adult onset. Patients with HSS/NBIA have a combination of motor symptoms in the form of dystonia, parkinsonism, choreoathetosis, corticospinal tract involvement, optic atrophy, pigmentary retinopathy, and cognitive impairment. After the recent identification of mutations in the PANK2 gene on chromosome 20p12.3–p13 in some patients with the HSS/NBIA phenotype, the term pantothenate kinase‐associated neurodegeneration (PKAN) has been proposed for this group of disorders. To characterize clinically and genetically HSS/NBIA, we reviewed 34 affected individuals from 10 different families, who satisfied the inclusion criteria for NBIA. Relatives of patients who had clinical, magnetic resonance imaging (MRI), or pathological findings of NBIA were included in the study. Four patients were found to have mutations in the pantothenate kinase 2 (PANK2) gene. We compared the clinical features and MRI findings of those with and without PANK2 mutations. The presence of mutation in the PANK2 gene is associated with younger age at onset and a higher frequency of dystonia, dysarthria, intellectual impairment, and gait disturbance. Parkinsonism is seen predominantly in adult‐onset patients whereas dystonia seems more frequent in the earlier‐onset cases. The phenotypic heterogeneity observed in our patients supports the notion of genetic heterogeneity in the HSS/NBIA syndrome. © 2003 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Oregon</li><li>Texas</li></region><settlement><li>Houston</li></settlement><orgName><li>Baylor College of Medicine</li></orgName></list><tree><country name="États-Unis"><region name="Texas"><name sortKey="Thomas, Madhavi" sort="Thomas, Madhavi" uniqKey="Thomas M" first="Madhavi" last="Thomas">Madhavi Thomas</name></region><name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J." last="Hayflick">Susan J. Hayflick</name><name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J." last="Hayflick">Susan J. Hayflick</name><name sortKey="Hayflick, Susan J" sort="Hayflick, Susan J" uniqKey="Hayflick S" first="Susan J." last="Hayflick">Susan J. Hayflick</name><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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