MovDisordV3, PubMed, Corpus, bibRecord, 002F62

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.

Identifieur interne : 002F62 ( PubMed/Corpus ); précédent : 002F61; suivant : 002F63

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.

Auteurs : Clement T. Loy ; Mary G. Sweeney ; Mary B. Davis ; Adrian J. Wills ; Guy V. Sawle ; Andrew J. Lees ; Sarah J. Tabrizi

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.

RBID : pubmed:16037935

English descriptors

KwdEn :
- Cognition Disorders (etiology), Female, Humans, Magnetic Resonance Imaging, Middle Aged, Phenotype, Putamen (pathology), Spinocerebellar Ataxias (genetics), Spinocerebellar Ataxias (pathology), Spinocerebellar Ataxias (physiopathology), TATA-Box Binding Protein (genetics), Trinucleotide Repeat Expansion (genetics).
MESH :
- chemical , genetics : TATA-Box Binding Protein.
- etiology : Cognition Disorders.
- genetics : Spinocerebellar Ataxias, Trinucleotide Repeat Expansion.
- pathology : Putamen, Spinocerebellar Ataxias.
- physiopathology : Spinocerebellar Ataxias.
- Female, Humans, Magnetic Resonance Imaging, Middle Aged, Phenotype.

Abstract

We report on a 50-year-old woman who presented with an 8-year history of involuntary movements, unsteadiness, and cognitive decline. Examination revealed multidomain cognitive deficits, jerky ocular pursuit movements, hypometric saccades, gaze impersistence, dysarthria, upper limb dystonia, and widespread chorea. TATA-binding protein gene test revealed trinucleotide expansion allele sizes of 47 and 39 repeats, confirming the diagnosis of spinocerebellar ataxia type 17 (SCA-17). Magnetic resonance imaging (MRI) showed marked cerebellar atrophy and putaminal rim hyperintensity. This is the first case of SCA-17 reported to show MRI signal change in the basal ganglia, and extends the phenotypic manifestation of SCA-17.

DOI: 10.1002/mds.20529
PubMed: 16037935

Links to Exploration step

pubmed:16037935

Le document en format XML

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<author><name sortKey="Loy, Clement T" sort="Loy, Clement T" uniqKey="Loy C" first="Clement T" last="Loy">Clement T. Loy</name>
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<author><name sortKey="Sweeney, Mary G" sort="Sweeney, Mary G" uniqKey="Sweeney M" first="Mary G" last="Sweeney">Mary G. Sweeney</name>
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<author><name sortKey="Davis, Mary B" sort="Davis, Mary B" uniqKey="Davis M" first="Mary B" last="Davis">Mary B. Davis</name>
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<author><name sortKey="Wills, Adrian J" sort="Wills, Adrian J" uniqKey="Wills A" first="Adrian J" last="Wills">Adrian J. Wills</name>
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<author><name sortKey="Sawle, Guy V" sort="Sawle, Guy V" uniqKey="Sawle G" first="Guy V" last="Sawle">Guy V. Sawle</name>
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<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name>
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<term>Putamen (pathology)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar Ataxias (pathology)</term>
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<front><div type="abstract" xml:lang="en">We report on a 50-year-old woman who presented with an 8-year history of involuntary movements, unsteadiness, and cognitive decline. Examination revealed multidomain cognitive deficits, jerky ocular pursuit movements, hypometric saccades, gaze impersistence, dysarthria, upper limb dystonia, and widespread chorea. TATA-binding protein gene test revealed trinucleotide expansion allele sizes of 47 and 39 repeats, confirming the diagnosis of spinocerebellar ataxia type 17 (SCA-17). Magnetic resonance imaging (MRI) showed marked cerebellar atrophy and putaminal rim hyperintensity. This is the first case of SCA-17 reported to show MRI signal change in the basal ganglia, and extends the phenotypic manifestation of SCA-17.</div>
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<Abstract><AbstractText>We report on a 50-year-old woman who presented with an 8-year history of involuntary movements, unsteadiness, and cognitive decline. Examination revealed multidomain cognitive deficits, jerky ocular pursuit movements, hypometric saccades, gaze impersistence, dysarthria, upper limb dystonia, and widespread chorea. TATA-binding protein gene test revealed trinucleotide expansion allele sizes of 47 and 39 repeats, confirming the diagnosis of spinocerebellar ataxia type 17 (SCA-17). Magnetic resonance imaging (MRI) showed marked cerebellar atrophy and putaminal rim hyperintensity. This is the first case of SCA-17 reported to show MRI signal change in the basal ganglia, and extends the phenotypic manifestation of SCA-17.</AbstractText>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.

Spinocerebellar ataxia type 17: extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging.

Source :

English descriptors

Abstract

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