Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
Identifieur interne : 002755 ( Main/Exploration ); précédent : 002754; suivant : 002756Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
Auteurs : Teresa Temudo [Portugal] ; Elisabete Ramos [Portugal] ; Karin Dias [Portugal] ; Clara Barbot [Portugal] ; Jose P. Vieira [Portugal] ; Ana Moreira [Portugal] ; Eulalia Calado [Portugal] ; Ines Carrilho [Portugal] ; Guiomar Oliveira [Portugal] ; Antonio Levy [Portugal] ; Maria Fonseca [Portugal] ; Alexandra Cabral [Portugal] ; Pedro Cabral [Portugal] ; Joao P. Monteiro [Portugal] ; Luis Borges [Portugal] ; Roseli Gomes [Portugal] ; Manuela Santos [Portugal] ; Jorge Sequeiros [Portugal] ; Patricia Maciel [Portugal]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-07-30.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- Adolescent, Age of Onset, Child, Child, Preschool, Chorea, Codon, Nonsense, Disease Progression, Dystonia, Female, Frameshift Mutation, Genotype, Human, Humans, Male, Methyl-CpG-Binding Protein 2 (genetics), Methyl-CpG-Binding Protein 2 (physiology), Movement Disorders (etiology), Mutation, Mutation, Missense, Nervous system diseases, Parkinson, Rett Syndrome (complications), Rett Syndrome (genetics), Rett syndrome, Sequence Deletion, Severity of Illness Index, Stereotypic Movement Disorder (etiology), Stereotypy, Time Factors, Tremor, chorea, dystonia, rigidity, stereotypies, tremor.
- MESH :
- chemical , genetics : Methyl-CpG-Binding Protein 2.
- chemical , physiology : Methyl-CpG-Binding Protein 2.
- chemical : Codon, Nonsense.
- complications : Rett Syndrome.
- etiology : Movement Disorders, Stereotypic Movement Disorder.
- genetics : Rett Syndrome.
- Adolescent, Age of Onset, Child, Child, Preschool, Disease Progression, Female, Frameshift Mutation, Genotype, Humans, Male, Mutation, Mutation, Missense, Sequence Deletion, Severity of Illness Index, Time Factors.
Abstract
Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives such as stereotypies, tremor, chorea, myoclonus, ataxia, dystonia, and rigidity. The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their correlation with genotype, in a clinically and genetically well‐characterized sample of patients, and thus contribute to redefine the clinical profile of this disease. In this study, we included 60 patients with detected MECP2 mutations. These were categorized and grouped for analysis, according to (1) type of change (missense or truncating, including nonsense and frameshift but also large deletions) and (2) location of the mutation. Differences were found concerning the frequency of independent gait, dystonia, type of tremor, and global score severity when comparing the group of patients with missense and truncating mutations. We also found differences in the presence, distribution, severity, or type of movement disorders in the two groups of patients according to the median duration of the disease (less than 60 months; 60 months or more). We conclude that movement disorders seem to reflect the severity and rate of progression of Rett disorder, patients with truncating mutations presenting a higher rate and more severe dystonia and rigid‐akinetic syndrome, when comparing groups with similar time of disease evolution. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22115
Affiliations:
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Monteiro</name><affiliation wicri:level="1"><country xml:lang="fr">Portugal</country><wicri:regionArea>Unidade de Neuropediatria, Hospital Garcia da Orta, Almada</wicri:regionArea><wicri:noRegion>Almada</wicri:noRegion></affiliation></author><author><name sortKey="Borges, Luis" sort="Borges, Luis" uniqKey="Borges L" first="Luis" last="Borges">Luis Borges</name><affiliation wicri:level="1"><country xml:lang="fr">Portugal</country><wicri:regionArea>Centro de Neuropediatria, Hospital Pediátrico, Coimbra</wicri:regionArea><wicri:noRegion>Coimbra</wicri:noRegion></affiliation></author><author><name sortKey="Gomes, Roseli" sort="Gomes, Roseli" uniqKey="Gomes R" first="Roseli" last="Gomes">Roseli Gomes</name><affiliation wicri:level="1"><country xml:lang="fr">Portugal</country><wicri:regionArea>Unidade de Neuropediatria, Hospital Pedro Hispano, Matosinhos</wicri:regionArea><wicri:noRegion>Matosinhos</wicri:noRegion></affiliation></author><author><name sortKey="Santos, Manuela" sort="Santos, Manuela" uniqKey="Santos M" first="Manuela" last="Santos">Manuela Santos</name><affiliation wicri:level="1"><country xml:lang="fr">Portugal</country><wicri:regionArea>Serviço de Neuropediatria, Hospital de Crianças Maria Pia, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Sequeiros, Jorge" sort="Sequeiros, Jorge" uniqKey="Sequeiros J" first="Jorge" last="Sequeiros">Jorge Sequeiros</name><affiliation wicri:level="1"><country xml:lang="fr">Portugal</country><wicri:regionArea>Departamento de Estudos de Populações, ICBAS, Universidade do Porto</wicri:regionArea><wicri:noRegion>Universidade do Porto</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Portugal</country><wicri:regionArea>UnIGENe, IBMC, Porto</wicri:regionArea><wicri:noRegion>Porto</wicri:noRegion></affiliation></author><author><name sortKey="Maciel, Patricia" sort="Maciel, Patricia" uniqKey="Maciel P" first="Patricia" last="Maciel">Patricia Maciel</name><affiliation wicri:level="1"><country xml:lang="fr">Portugal</country><wicri:regionArea>Instituto de Investigação em Ciências da Vida e da Saúde (ICVS), Escola de Ciências da Saúde, Universidade Minho, Braga</wicri:regionArea><wicri:noRegion>Braga</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2008-07-30">2008-07-30</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1384">1384</biblScope><biblScope unit="page" to="1390">1390</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">1550E6A7904410206A8A7E3C96BB53E0A795846E</idno><idno type="DOI">10.1002/mds.22115</idno><idno type="ArticleID">MDS22115</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>Chorea</term><term>Codon, Nonsense</term><term>Disease Progression</term><term>Dystonia</term><term>Female</term><term>Frameshift Mutation</term><term>Genotype</term><term>Human</term><term>Humans</term><term>Male</term><term>Methyl-CpG-Binding Protein 2 (genetics)</term><term>Methyl-CpG-Binding Protein 2 (physiology)</term><term>Movement Disorders (etiology)</term><term>Mutation</term><term>Mutation, Missense</term><term>Nervous system diseases</term><term>Parkinson</term><term>Rett Syndrome (complications)</term><term>Rett Syndrome (genetics)</term><term>Rett syndrome</term><term>Sequence Deletion</term><term>Severity of Illness Index</term><term>Stereotypic Movement Disorder (etiology)</term><term>Stereotypy</term><term>Time Factors</term><term>Tremor</term><term>chorea</term><term>dystonia</term><term>rigidity</term><term>stereotypies</term><term>tremor</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Methyl-CpG-Binding Protein 2</term></keywords><keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Methyl-CpG-Binding Protein 2</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Nonsense</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Rett Syndrome</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Movement Disorders</term><term>Stereotypic Movement Disorder</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Rett Syndrome</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Age of Onset</term><term>Child</term><term>Child, Preschool</term><term>Disease Progression</term><term>Female</term><term>Frameshift Mutation</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Mutation, Missense</term><term>Sequence Deletion</term><term>Severity of Illness Index</term><term>Time Factors</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Homme</term><term>Mutation</term><term>Pathologie du système nerveux</term><term>Stéréotypie</term><term>Syndrome choréique</term><term>Syndrome de Rett</term><term>Tremblement</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Rett syndrome (RS) is one of the best human models to study movement disorders. Patients evolve from a hyperkinetic to a hypokinetic state, and a large series of abnormal movements may be observed along their lives such as stereotypies, tremor, chorea, myoclonus, ataxia, dystonia, and rigidity. The aim of this work was to analyze movement disorders in RS patients with a detected MECP2 mutation, as well as their correlation with genotype, in a clinically and genetically well‐characterized sample of patients, and thus contribute to redefine the clinical profile of this disease. In this study, we included 60 patients with detected MECP2 mutations. These were categorized and grouped for analysis, according to (1) type of change (missense or truncating, including nonsense and frameshift but also large deletions) and (2) location of the mutation. Differences were found concerning the frequency of independent gait, dystonia, type of tremor, and global score severity when comparing the group of patients with missense and truncating mutations. We also found differences in the presence, distribution, severity, or type of movement disorders in the two groups of patients according to the median duration of the disease (less than 60 months; 60 months or more). We conclude that movement disorders seem to reflect the severity and rate of progression of Rett disorder, patients with truncating mutations presenting a higher rate and more severe dystonia and rigid‐akinetic syndrome, when comparing groups with similar time of disease evolution. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Portugal</li></country></list><tree><country name="Portugal"><noRegion><name sortKey="Temudo, Teresa" sort="Temudo, Teresa" uniqKey="Temudo T" first="Teresa" last="Temudo">Teresa Temudo</name></noRegion><name sortKey="Barbot, Clara" sort="Barbot, Clara" uniqKey="Barbot C" first="Clara" last="Barbot">Clara Barbot</name><name sortKey="Borges, Luis" sort="Borges, Luis" uniqKey="Borges L" first="Luis" last="Borges">Luis Borges</name><name sortKey="Cabral, Alexandra" sort="Cabral, Alexandra" uniqKey="Cabral A" first="Alexandra" last="Cabral">Alexandra Cabral</name><name sortKey="Cabral, Pedro" sort="Cabral, Pedro" uniqKey="Cabral P" first="Pedro" last="Cabral">Pedro Cabral</name><name sortKey="Calado, Eulalia" sort="Calado, Eulalia" uniqKey="Calado E" first="Eulalia" last="Calado">Eulalia Calado</name><name sortKey="Carrilho, Ines" sort="Carrilho, Ines" uniqKey="Carrilho I" first="Ines" last="Carrilho">Ines Carrilho</name><name sortKey="Dias, Karin" sort="Dias, Karin" uniqKey="Dias K" first="Karin" last="Dias">Karin Dias</name><name sortKey="Fonseca, Maria" sort="Fonseca, Maria" uniqKey="Fonseca M" first="Maria" last="Fonseca">Maria Fonseca</name><name sortKey="Gomes, Roseli" sort="Gomes, Roseli" uniqKey="Gomes R" first="Roseli" last="Gomes">Roseli Gomes</name><name sortKey="Levy, Antonio" sort="Levy, Antonio" uniqKey="Levy A" first="Antonio" last="Levy">Antonio Levy</name><name sortKey="Maciel, Patricia" sort="Maciel, Patricia" uniqKey="Maciel P" first="Patricia" last="Maciel">Patricia Maciel</name><name sortKey="Monteiro, Joao P" sort="Monteiro, Joao P" uniqKey="Monteiro J" first="Joao P" last="Monteiro">Joao P. Monteiro</name><name sortKey="Moreira, Ana" sort="Moreira, Ana" uniqKey="Moreira A" first="Ana" last="Moreira">Ana Moreira</name><name sortKey="Oliveira, Guiomar" sort="Oliveira, Guiomar" uniqKey="Oliveira G" first="Guiomar" last="Oliveira">Guiomar Oliveira</name><name sortKey="Ramos, Elisabete" sort="Ramos, Elisabete" uniqKey="Ramos E" first="Elisabete" last="Ramos">Elisabete Ramos</name><name sortKey="Santos, Manuela" sort="Santos, Manuela" uniqKey="Santos M" first="Manuela" last="Santos">Manuela Santos</name><name sortKey="Sequeiros, Jorge" sort="Sequeiros, Jorge" uniqKey="Sequeiros J" first="Jorge" last="Sequeiros">Jorge Sequeiros</name><name sortKey="Sequeiros, Jorge" sort="Sequeiros, Jorge" uniqKey="Sequeiros J" first="Jorge" last="Sequeiros">Jorge Sequeiros</name><name sortKey="Vieira, Jose P" sort="Vieira, Jose P" uniqKey="Vieira J" first="Jose P." last="Vieira">Jose P. Vieira</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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