Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree.
Identifieur interne : 001396 ( Ncbi/Checkpoint ); précédent : 001395; suivant : 001397Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree.
Auteurs : Alberto L. Rosa [Argentine] ; Irma Molina ; Valeria Kowaljow ; Cecilia B. CondeSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
Descripteurs français
- Wicri :
- geographic : Argentine.
English descriptors
- KwdEn :
- Adult, Aged, Algorithms, Alleles, Argentina, DNA Mutational Analysis, Diagnosis, Differential, Female, Genetic Testing, Genotype, Humans, Male, Membrane Proteins (genetics), Middle Aged, Neurologic Examination, Pedigree, Phenotype, Reflex, Stretch (genetics), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics), Statistics as Topic.
- MESH :
- chemical , genetics : Membrane Proteins.
- geographic : Argentina.
- diagnosis : Spinocerebellar Ataxias.
- genetics : Reflex, Stretch, Spinocerebellar Ataxias.
- Adult, Aged, Algorithms, Alleles, DNA Mutational Analysis, Diagnosis, Differential, Female, Genetic Testing, Genotype, Humans, Male, Middle Aged, Neurologic Examination, Pedigree, Phenotype, Statistics as Topic.
Abstract
Slow saccades, postural/intention tremor, peripheral neuropathy, and decreased deep-tendon reflexes are valuable neurological signs for clinical suspicion of spinocerebellar ataxia type 2 (SCA2). We report the presence of abnormally brisk deep-tendon reflexes in nonsymptomatic carriers and mildly and severely affected subjects of a large Argentinean SCA2 pedigree. The identification of this distinctive SCA2 phenotype in an entire pedigree reinforces the current concept that clinical algorithms are of limited value as indicators for genetic testing in SCA. Combined with published pedigrees of SCA2 manifesting as levodopa-responsive parkinsonism, this finding suggests that modifier genes could influence the clinical phenotype of SCA2.
DOI: 10.1002/mds.20636
PubMed: 16108012
Affiliations:
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pubmed:16108012Le document en format XML
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Rosa</name><affiliation wicri:level="1"><nlm:affiliation>Laboratorio de Neurogenética, Instituto de Investigación Médica Mercedes y Martín Ferreyra, INIMEC-CONICET, Argentina. arosa@wsu.edu</nlm:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Laboratorio de Neurogenética, Instituto de Investigación Médica Mercedes y Martín Ferreyra, INIMEC-CONICET</wicri:regionArea><wicri:noRegion>INIMEC-CONICET</wicri:noRegion></affiliation></author><author><name sortKey="Molina, Irma" sort="Molina, Irma" uniqKey="Molina I" first="Irma" last="Molina">Irma Molina</name></author><author><name sortKey="Kowaljow, Valeria" sort="Kowaljow, Valeria" uniqKey="Kowaljow V" first="Valeria" last="Kowaljow">Valeria Kowaljow</name></author><author><name sortKey="Conde, Cecilia B" sort="Conde, Cecilia B" uniqKey="Conde C" first="Cecilia B" last="Conde">Cecilia B. 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Rosa</name><affiliation wicri:level="1"><nlm:affiliation>Laboratorio de Neurogenética, Instituto de Investigación Médica Mercedes y Martín Ferreyra, INIMEC-CONICET, Argentina. arosa@wsu.edu</nlm:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Laboratorio de Neurogenética, Instituto de Investigación Médica Mercedes y Martín Ferreyra, INIMEC-CONICET</wicri:regionArea><wicri:noRegion>INIMEC-CONICET</wicri:noRegion></affiliation></author><author><name sortKey="Molina, Irma" sort="Molina, Irma" uniqKey="Molina I" first="Irma" last="Molina">Irma Molina</name></author><author><name sortKey="Kowaljow, Valeria" sort="Kowaljow, Valeria" uniqKey="Kowaljow V" first="Valeria" last="Kowaljow">Valeria Kowaljow</name></author><author><name sortKey="Conde, Cecilia B" sort="Conde, Cecilia B" uniqKey="Conde C" first="Cecilia B" last="Conde">Cecilia B. Conde</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Algorithms</term><term>Alleles</term><term>Argentina</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Female</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term><term>Reflex, Stretch (genetics)</term><term>Spinocerebellar Ataxias (diagnosis)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Statistics as Topic</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Argentina</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Reflex, Stretch</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Algorithms</term><term>Alleles</term><term>DNA Mutational Analysis</term><term>Diagnosis, Differential</term><term>Female</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Neurologic Examination</term><term>Pedigree</term><term>Phenotype</term><term>Statistics as Topic</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Argentine</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Slow saccades, postural/intention tremor, peripheral neuropathy, and decreased deep-tendon reflexes are valuable neurological signs for clinical suspicion of spinocerebellar ataxia type 2 (SCA2). We report the presence of abnormally brisk deep-tendon reflexes in nonsymptomatic carriers and mildly and severely affected subjects of a large Argentinean SCA2 pedigree. The identification of this distinctive SCA2 phenotype in an entire pedigree reinforces the current concept that clinical algorithms are of limited value as indicators for genetic testing in SCA. Combined with published pedigrees of SCA2 manifesting as levodopa-responsive parkinsonism, this finding suggests that modifier genes could influence the clinical phenotype of SCA2.</div></front></TEI><affiliations><list><country><li>Argentine</li></country></list><tree><noCountry><name sortKey="Conde, Cecilia B" sort="Conde, Cecilia B" uniqKey="Conde C" first="Cecilia B" last="Conde">Cecilia B. Conde</name><name sortKey="Kowaljow, Valeria" sort="Kowaljow, Valeria" uniqKey="Kowaljow V" first="Valeria" last="Kowaljow">Valeria Kowaljow</name><name sortKey="Molina, Irma" sort="Molina, Irma" uniqKey="Molina I" first="Irma" last="Molina">Irma Molina</name></noCountry><country name="Argentine"><noRegion><name sortKey="Rosa, Alberto L" sort="Rosa, Alberto L" uniqKey="Rosa A" first="Alberto L" last="Rosa">Alberto L. Rosa</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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