MovDisordV3, PubMed, Checkpoint, bibRecord, 001E62

Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.

Identifieur interne : 001E62 ( PubMed/Checkpoint ); précédent : 001E61; suivant : 001E63

Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.

Auteurs : Edoardo Ferlazzo [Italie] ; Domenico Italiano ; Isabelle An ; Tiziana Calarese ; Virginie Laguitton ; Placido Bramanti ; Paolo Di Bella ; Pierre Genton

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.

RBID : pubmed:19243074

Descripteurs français

Wicri :
- geographic : Algérie.

English descriptors

KwdEn :
- Adolescent, Adult, Algeria, Cognition Disorders (complications), Cognition Disorders (genetics), Electroencephalography (methods), Electromyography, Evoked Potentials, Visual, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Myoclonic Epilepsies, Progressive (complications), Myoclonic Epilepsies, Progressive (genetics), Neural Conduction (physiology), Neurologic Examination, Neuropsychological Tests, Young Adult.
MESH :
- geographic : Algeria.
- complications : Cognition Disorders, Myoclonic Epilepsies, Progressive.
- genetics : Cognition Disorders, Myoclonic Epilepsies, Progressive.
- methods : Electroencephalography.
- physiology : Neural Conduction.
- Adolescent, Adult, Electromyography, Evoked Potentials, Visual, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Neurologic Examination, Neuropsychological Tests, Young Adult.

Abstract

We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht-Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis.

DOI: 10.1002/mds.22489
PubMed: 19243074

Affiliations:

Italie

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pubmed:19243074

Le document en format XML

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<author><name sortKey="Ferlazzo, Edoardo" sort="Ferlazzo, Edoardo" uniqKey="Ferlazzo E" first="Edoardo" last="Ferlazzo">Edoardo Ferlazzo</name>
<affiliation wicri:level="1"><nlm:affiliation>IRCCS Centro Neurolesi Bonino-Pulejo, Messina, Italy. edoferl@hotmail.it</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Centro Neurolesi Bonino-Pulejo, Messina</wicri:regionArea>
<wicri:noRegion>Messina</wicri:noRegion>
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<author><name sortKey="Italiano, Domenico" sort="Italiano, Domenico" uniqKey="Italiano D" first="Domenico" last="Italiano">Domenico Italiano</name>
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<author><name sortKey="An, Isabelle" sort="An, Isabelle" uniqKey="An I" first="Isabelle" last="An">Isabelle An</name>
</author>
<author><name sortKey="Calarese, Tiziana" sort="Calarese, Tiziana" uniqKey="Calarese T" first="Tiziana" last="Calarese">Tiziana Calarese</name>
</author>
<author><name sortKey="Laguitton, Virginie" sort="Laguitton, Virginie" uniqKey="Laguitton V" first="Virginie" last="Laguitton">Virginie Laguitton</name>
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<author><name sortKey="Bramanti, Placido" sort="Bramanti, Placido" uniqKey="Bramanti P" first="Placido" last="Bramanti">Placido Bramanti</name>
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<author><name sortKey="Di Bella, Paolo" sort="Di Bella, Paolo" uniqKey="Di Bella P" first="Paolo" last="Di Bella">Paolo Di Bella</name>
</author>
<author><name sortKey="Genton, Pierre" sort="Genton, Pierre" uniqKey="Genton P" first="Pierre" last="Genton">Pierre Genton</name>
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<author><name sortKey="Calarese, Tiziana" sort="Calarese, Tiziana" uniqKey="Calarese T" first="Tiziana" last="Calarese">Tiziana Calarese</name>
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<author><name sortKey="Di Bella, Paolo" sort="Di Bella, Paolo" uniqKey="Di Bella P" first="Paolo" last="Di Bella">Paolo Di Bella</name>
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<author><name sortKey="Genton, Pierre" sort="Genton, Pierre" uniqKey="Genton P" first="Pierre" last="Genton">Pierre Genton</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
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<term>Cognition Disorders (complications)</term>
<term>Cognition Disorders (genetics)</term>
<term>Electroencephalography (methods)</term>
<term>Electromyography</term>
<term>Evoked Potentials, Visual</term>
<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Myoclonic Epilepsies, Progressive (complications)</term>
<term>Myoclonic Epilepsies, Progressive (genetics)</term>
<term>Neural Conduction (physiology)</term>
<term>Neurologic Examination</term>
<term>Neuropsychological Tests</term>
<term>Young Adult</term>
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<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Algeria</term>
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<term>Myoclonic Epilepsies, Progressive</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cognition Disorders</term>
<term>Myoclonic Epilepsies, Progressive</term>
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<term>Neurologic Examination</term>
<term>Neuropsychological Tests</term>
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<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Algérie</term>
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<front><div type="abstract" xml:lang="en">We report a family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic-clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. The diagnosis of Unverricht-Lundborg disease and all other known causes of progressive myoclonus epilepsies were excluded by specific laboratory tests and molecular analysis.</div>
</front>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.</ArticleTitle>
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<tree><noCountry><name sortKey="An, Isabelle" sort="An, Isabelle" uniqKey="An I" first="Isabelle" last="An">Isabelle An</name>
<name sortKey="Bramanti, Placido" sort="Bramanti, Placido" uniqKey="Bramanti P" first="Placido" last="Bramanti">Placido Bramanti</name>
<name sortKey="Calarese, Tiziana" sort="Calarese, Tiziana" uniqKey="Calarese T" first="Tiziana" last="Calarese">Tiziana Calarese</name>
<name sortKey="Di Bella, Paolo" sort="Di Bella, Paolo" uniqKey="Di Bella P" first="Paolo" last="Di Bella">Paolo Di Bella</name>
<name sortKey="Genton, Pierre" sort="Genton, Pierre" uniqKey="Genton P" first="Pierre" last="Genton">Pierre Genton</name>
<name sortKey="Italiano, Domenico" sort="Italiano, Domenico" uniqKey="Italiano D" first="Domenico" last="Italiano">Domenico Italiano</name>
<name sortKey="Laguitton, Virginie" sort="Laguitton, Virginie" uniqKey="Laguitton V" first="Virginie" last="Laguitton">Virginie Laguitton</name>
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<country name="Italie"><noRegion><name sortKey="Ferlazzo, Edoardo" sort="Ferlazzo, Edoardo" uniqKey="Ferlazzo E" first="Edoardo" last="Ferlazzo">Edoardo Ferlazzo</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.

Description of a family with a novel progressive myoclonus epilepsy and cognitive impairment.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki