The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases.
Identifieur interne : 002454 ( PubMed/Corpus ); précédent : 002453; suivant : 002455The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases.
Auteurs : Nee K. Chew ; Pablo Mir ; Mark J. Edwards ; Carla Cordivari ; Davide Martino ; Susanne A. Schneider ; Hee-Tae Kim ; Niall P. Quinn ; Kailash P. BhatiaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- Adolescent, Adult, Age Factors, Atrophy (complications), Atrophy (pathology), Brain (pathology), Brain (physiopathology), 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 (complications), Myoclonus (diagnosis), Neuropsychological Tests, Seizures (complications), Seizures (diagnosis), Severity of Illness Index, Unverricht-Lundborg Syndrome (diagnosis), Unverricht-Lundborg Syndrome (genetics), Unverricht-Lundborg Syndrome (physiopathology).
- 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.
DOI: 10.1002/mds.21812
PubMed: 17994572
Links to Exploration step
pubmed:17994572Le document en format XML
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Edwards</name></author><author><name sortKey="Cordivari, Carla" sort="Cordivari, Carla" uniqKey="Cordivari C" first="Carla" last="Cordivari">Carla Cordivari</name></author><author><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name></author><author><name sortKey="Kim, Hee Tae" sort="Kim, Hee Tae" uniqKey="Kim H" first="Hee-Tae" last="Kim">Hee-Tae Kim</name></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. 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Chew</name><affiliation><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom.</nlm:affiliation></affiliation></author><author><name sortKey="Mir, Pablo" sort="Mir, Pablo" uniqKey="Mir P" first="Pablo" last="Mir">Pablo Mir</name></author><author><name sortKey="Edwards, Mark J" sort="Edwards, Mark J" uniqKey="Edwards M" first="Mark J" last="Edwards">Mark J. Edwards</name></author><author><name sortKey="Cordivari, Carla" sort="Cordivari, Carla" uniqKey="Cordivari C" first="Carla" last="Cordivari">Carla Cordivari</name></author><author><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name></author><author><name sortKey="Kim, Hee Tae" sort="Kim, Hee Tae" uniqKey="Kim H" first="Hee-Tae" last="Kim">Hee-Tae Kim</name></author><author><name sortKey="Quinn, Niall P" sort="Quinn, Niall P" uniqKey="Quinn N" first="Niall P" last="Quinn">Niall P. Quinn</name></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P" last="Bhatia">Kailash P. Bhatia</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></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>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 (complications)</term><term>Myoclonus (diagnosis)</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></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></textClass></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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17994572</PMID><DateCreated><Year>2008</Year><Month>01</Month><Day>31</Day></DateCreated><DateCompleted><Year>2008</Year><Month>04</Month><Day>14</Day></DateCompleted><DateRevised><Year>2009</Year><Month>05</Month><Day>11</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>1</Issue><PubDate><Year>2008</Year><Month>Jan</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases.</ArticleTitle><Pagination><MedlinePgn>107-13</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>2007 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Chew</LastName><ForeName>Nee K</ForeName><Initials>NK</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mir</LastName><ForeName>Pablo</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Edwards</LastName><ForeName>Mark J</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>Cordivari</LastName><ForeName>Carla</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Martino</LastName><ForeName>Davide</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Schneider</LastName><ForeName>Susanne A</ForeName><Initials>SA</Initials></Author><Author ValidYN="Y"><LastName>Kim</LastName><ForeName>Hee-Tae</ForeName><Initials>HT</Initials></Author><Author ValidYN="Y"><LastName>Quinn</LastName><ForeName>Niall P</ForeName><Initials>NP</Initials></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>Kailash P</ForeName><Initials>KP</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="CommentIn"><RefSource>Mov Disord. 2009 Mar 15;24(4):629-30; author reply 630</RefSource><PMID Version="1">18512745</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000367">Age Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001284">Atrophy</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001921">Brain</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002524">Cerebellar Ataxia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002531">Cerebellum</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002891">Chromosomes, Human, Pair 21</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003704">Dementia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003937">Diagnosis, Differential</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018450">Disease Progression</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004421">Dystonia</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004569">Electroencephalography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004576">Electromyography</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005071">Evoked Potentials</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016057">Evoked Potentials, Auditory, Brain Stem</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000502">physiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009207">Myoclonus</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009483">Neuropsychological Tests</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012640">Seizures</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012720">Severity of Illness Index</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020194">Unverricht-Lundborg Syndrome</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2007</Year><Month>11</Month><Day>13</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2008</Year><Month>4</Month><Day>15</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2007</Year><Month>11</Month><Day>13</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21812</ArticleId><ArticleId IdType="pubmed">17994572</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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