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Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree.

Identifieur interne : 002E42 ( PubMed/Checkpoint ); précédent : 002E41; suivant : 002E43

Brisk 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. Conde

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.

RBID : pubmed:16108012

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:

Argentine

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Le document en format XML

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<author><name sortKey="Rosa, Alberto L" sort="Rosa, Alberto L" uniqKey="Rosa A" first="Alberto L" last="Rosa">Alberto L. Rosa</name>
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<author><name sortKey="Molina, Irma" sort="Molina, Irma" uniqKey="Molina I" first="Irma" last="Molina">Irma Molina</name>
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<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>
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<Abstract><AbstractText>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.</AbstractText>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree.

Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree.

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