Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family
Identifieur interne : 003184 ( Main/Exploration ); précédent : 003183; suivant : 003185Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family
Auteurs : Marcondes C. França Jr [Brésil] ; Maria E. Calcagnotto [Brésil] ; Jaderson C. Da Costa [Brésil] ; Iscia Lopes-Cendes [Brésil]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-07.
Descripteurs français
- Wicri :
- geographic : Brésil.
English descriptors
- KwdEn :
- Adult, Atrophy, Brain Stem (pathology), Brazil, Cerebellum (pathology), DNA Mutational Analysis, Diagnosis, Differential, Electromyography, Female, Founder Effect, Genetic Testing, Humans, Machado-Joseph Disease (diagnosis), Machado-Joseph Disease (genetics), Machado–Joseph disease, Nerve Tissue Proteins (genetics), Nuclear Proteins (genetics), Pedigree, Repressor Proteins (genetics), SCA2, SCA3, Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Tomography, X-Ray Computed, Trinucleotide Repeats, genetic testing.
- MESH :
- chemical , genetics : Nerve Tissue Proteins, Nuclear Proteins, Repressor Proteins.
- geographic : Brazil.
- diagnosis : Machado-Joseph Disease, Spinocerebellar Ataxias.
- genetics : Machado-Joseph Disease, Spinocerebellar Ataxias.
- pathology : Brain Stem, Cerebellum.
- Adult, Atrophy, DNA Mutational Analysis, Diagnosis, Differential, Electromyography, Female, Founder Effect, Genetic Testing, Humans, Pedigree, Tomography, X-Ray Computed, Trinucleotide Repeats.
Abstract
Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal‐dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second‐degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.20893
Affiliations:
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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="2006-07">2006-07</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="1051">1051</biblScope><biblScope unit="page" to="1053">1053</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">ABE3BF2E1FA069D35F89ECEDAAEC85F512C6969E</idno><idno type="DOI">10.1002/mds.20893</idno><idno type="ArticleID">MDS20893</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Atrophy</term><term>Brain Stem (pathology)</term><term>Brazil</term><term>Cerebellum (pathology)</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Electromyography</term><term>Female</term><term>Founder Effect</term><term>Genetic Testing</term><term>Humans</term><term>Machado-Joseph Disease (diagnosis)</term><term>Machado-Joseph Disease (genetics)</term><term>Machado–Joseph disease</term><term>Nerve Tissue Proteins (genetics)</term><term>Nuclear Proteins (genetics)</term><term>Pedigree</term><term>Repressor Proteins (genetics)</term><term>SCA2</term><term>SCA3</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Tomography, X-Ray Computed</term><term>Trinucleotide Repeats</term><term>genetic testing</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term><term>Nuclear Proteins</term><term>Repressor Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Brazil</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Machado-Joseph Disease</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Machado-Joseph Disease</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain Stem</term><term>Cerebellum</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Atrophy</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Electromyography</term><term>Female</term><term>Founder Effect</term><term>Genetic Testing</term><term>Humans</term><term>Pedigree</term><term>Tomography, X-Ray Computed</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Brésil</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal‐dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second‐degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Brésil</li></country><region><li>Rio Grande do Sul</li></region><settlement><li>Porto Alegre</li></settlement></list><tree><country name="Brésil"><noRegion><name sortKey="Franca Jr, Marcondes C" sort="Franca Jr, Marcondes C" uniqKey="Franca Jr M" first="Marcondes C." last="França Jr">Marcondes C. França Jr</name></noRegion><name sortKey="Calcagnotto, Maria E" sort="Calcagnotto, Maria E" uniqKey="Calcagnotto M" first="Maria E." last="Calcagnotto">Maria E. Calcagnotto</name><name sortKey="Da Costa, Jaderson C" sort="Da Costa, Jaderson C" uniqKey="Da Costa J" first="Jaderson C." last="Da Costa">Jaderson C. Da Costa</name><name sortKey="Lopes Endes, Iscia" sort="Lopes Endes, Iscia" uniqKey="Lopes Endes I" first="Iscia" last="Lopes-Cendes">Iscia Lopes-Cendes</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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