The natural history of Unverricht‐Lundborg disease: A report of eight genetically proven cases
Identifieur interne : 002579 ( Main/Exploration ); précédent : 002578; suivant : 002580The natural history of Unverricht‐Lundborg disease: A report of eight genetically proven cases
Auteurs : Nee K. Chew [Royaume-Uni] ; Pablo Mir [Royaume-Uni, Espagne] ; Mark J. Edwards [Royaume-Uni] ; Carla Cordivari [Royaume-Uni] ; Davide Martino [Royaume-Uni, Italie] ; Susanne A. Schneider [Royaume-Uni] ; Hee-Tae Kim [Royaume-Uni] ; Niall P. Quinn [Royaume-Uni] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-01.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Adult, Age Factors, Atrophy (complications), Atrophy (pathology), Brain (pathology), Brain (physiopathology), Case study, Cerebellar Ataxia (complications), Cerebellar Ataxia (diagnosis), Cerebellum (pathology), Cerebellum (physiopathology), Child, Chromosomes, Human, Pair 21 (genetics), Dementia (complications), Dementia (diagnosis), Diagnosis, Differential, Disease Progression, Dystonia (complications), Dystonia (diagnosis), Electroencephalography, Electromyography, Evoked Potentials (physiology), Evoked Potentials, Auditory, Brain Stem (physiology), Female, Humans, Magnetic Resonance Imaging, Male, Myoclonus, Myoclonus (complications), Myoclonus (diagnosis), Nervous system diseases, Neuropsychological Tests, Seizures (complications), Seizures (diagnosis), Severity of Illness Index, Unverricht-Lundborg Syndrome (diagnosis), Unverricht-Lundborg Syndrome (genetics), Unverricht-Lundborg Syndrome (physiopathology), Unverricht‐Lundborg, baltic myoclonus, myoclonus, natural history.
- MESH :
- complications : Atrophy, Cerebellar Ataxia, Dementia, Dystonia, Myoclonus, Seizures.
- diagnosis : Cerebellar Ataxia, Dementia, Dystonia, Myoclonus, Seizures, Unverricht-Lundborg Syndrome.
- genetics : Chromosomes, Human, Pair 21, Unverricht-Lundborg Syndrome.
- pathology : Atrophy, Brain, Cerebellum.
- physiology : Evoked Potentials, Evoked Potentials, Auditory, Brain Stem.
- physiopathology : Brain, Cerebellum, Unverricht-Lundborg Syndrome.
- Adolescent, Adult, Age Factors, Child, Diagnosis, Differential, Disease Progression, Electroencephalography, Electromyography, Female, Humans, Magnetic Resonance Imaging, Male, Neuropsychological Tests, Severity of Illness Index.
Abstract
We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6–14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21–37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory. © 2007 Movement Disorder Society
Url:
DOI: 10.1002/mds.21812
Affiliations:
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Chew</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Servicio de Neurología, Hospital Universitario Virgen del Rocío, Seville</wicri:regionArea><wicri:noRegion>Seville</wicri:noRegion></affiliation></author><author><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. Edwards</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Cordivari, Carla" sort="Cordivari, Carla" uniqKey="Cordivari C" first="Carla" last="Cordivari">Carla Cordivari</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>National Hospital for Neurology and Neurosurgery, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological and Psychiatric Sciences, University of Bari</wicri:regionArea><wicri:noRegion>University of Bari</wicri:noRegion></affiliation></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Kim, Hee Ae" sort="Kim, Hee Ae" uniqKey="Kim H" first="Hee-Tae" last="Kim">Hee-Tae Kim</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. 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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="2008-01">2008-01</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="107">107</biblScope><biblScope unit="page" to="113">113</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">3283E95A9C2414F3F5792800F0441EC1A69A7EE9</idno><idno type="DOI">10.1002/mds.21812</idno><idno type="ArticleID">MDS21812</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>Atrophy (complications)</term><term>Atrophy (pathology)</term><term>Brain (pathology)</term><term>Brain (physiopathology)</term><term>Case study</term><term>Cerebellar Ataxia (complications)</term><term>Cerebellar Ataxia (diagnosis)</term><term>Cerebellum (pathology)</term><term>Cerebellum (physiopathology)</term><term>Child</term><term>Chromosomes, Human, Pair 21 (genetics)</term><term>Dementia (complications)</term><term>Dementia (diagnosis)</term><term>Diagnosis, Differential</term><term>Disease Progression</term><term>Dystonia (complications)</term><term>Dystonia (diagnosis)</term><term>Electroencephalography</term><term>Electromyography</term><term>Evoked Potentials (physiology)</term><term>Evoked Potentials, Auditory, Brain Stem (physiology)</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Myoclonus</term><term>Myoclonus (complications)</term><term>Myoclonus (diagnosis)</term><term>Nervous system diseases</term><term>Neuropsychological Tests</term><term>Seizures (complications)</term><term>Seizures (diagnosis)</term><term>Severity of Illness Index</term><term>Unverricht-Lundborg Syndrome (diagnosis)</term><term>Unverricht-Lundborg Syndrome (genetics)</term><term>Unverricht-Lundborg Syndrome (physiopathology)</term><term>Unverricht‐Lundborg</term><term>baltic myoclonus</term><term>myoclonus</term><term>natural history</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Atrophy</term><term>Cerebellar Ataxia</term><term>Dementia</term><term>Dystonia</term><term>Myoclonus</term><term>Seizures</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Cerebellar Ataxia</term><term>Dementia</term><term>Dystonia</term><term>Myoclonus</term><term>Seizures</term><term>Unverricht-Lundborg Syndrome</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 21</term><term>Unverricht-Lundborg Syndrome</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Atrophy</term><term>Brain</term><term>Cerebellum</term></keywords><keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Evoked Potentials</term><term>Evoked Potentials, Auditory, Brain Stem</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Brain</term><term>Cerebellum</term><term>Unverricht-Lundborg Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Age Factors</term><term>Child</term><term>Diagnosis, Differential</term><term>Disease Progression</term><term>Electroencephalography</term><term>Electromyography</term><term>Female</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Neuropsychological Tests</term><term>Severity of Illness Index</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Etude cas</term><term>Myoclonie</term><term>Pathologie du système nerveux</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We report eight cases of genetically proven ULD, with the aim of reassessing the clinical characteristics and natural history of ULD in genetically characterized patients. The eight patients had their first symptoms at mean age of 10.6 years (range: 6–14 years). The main clinical features were action myoclonus, cerebellar ataxia, seizures, and mild intellectual dysfunction. We report three new clinical features of ULD; ocular motor apraxia, dystonia, and rapidly progressive dementia. All patients needed a combination of at least four antimyoclonic drugs, but despite this, all patients were severely disabled by their action myoclonus. After a mean duration of disease of 29.9 years (range: 21–37 years), four patients were walking with aids while another four were wheelchair bound. The clinical phenotypes associated with ULD are more diverse than previously recognized and even though the long term functional outcome and survival have improved, the overall efficacy of antimyoclonic drugs remains unsatisfactory. © 2007 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Espagne</li><li>Italie</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Chew, Nee K" sort="Chew, Nee K" uniqKey="Chew N" first="Nee K." last="Chew">Nee K. Chew</name></region><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><name sortKey="Cordivari, Carla" sort="Cordivari, Carla" uniqKey="Cordivari C" first="Carla" last="Cordivari">Carla Cordivari</name><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J." last="Edwards">Mark J. Edwards</name><name sortKey="Kim, Hee Ae" sort="Kim, Hee Ae" uniqKey="Kim H" first="Hee-Tae" last="Kim">Hee-Tae Kim</name><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P." last="Quinn">Niall P. Quinn</name><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A." last="Schneider">Susanne A. Schneider</name></country><country name="Espagne"><noRegion><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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