MovDisordV3, Main, Curation, bibRecord, 002602

The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome

Identifieur interne : 002602 ( Main/Curation ); précédent : 002601; suivant : 002603

The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome

Auteurs : Giacomina Rossi [Italie] ; Cecilia Marelli [Italie] ; Laura Farina [Italie] ; Matilde Laurà [Italie] ; Anna Maria Basile [Italie] ; Claudia Ciano [Italie] ; Fabrizio Tagliavini [Italie] ; Davide Pareyson [Italie]

Source :

Movement Disorders [ 0885-3185 ] ; 2008-04-30.

RBID : ISTEX:0172F9C5058553C8D4004F45E390C55ED945DE77

Descripteurs français

Pascal (Inist)
- Démence frontotemporale, Imagerie RMN, Mutation, Pathologie du système nerveux, Sporadique.

English descriptors

KwdEn :
- Adult, Amino Acid Substitution, Basal Ganglia (pathology), Brain Diseases (genetics), Cerebral Cortex (pathology), Chromosomes, Human, Pair 17, Dementia (genetics), Frontotemporal dementia, Humans, Male, Mutation, Nervous system diseases, Nuclear magnetic resonance imaging, Parkinson Disease (genetics), Sporadic, Tauopathies (genetics), Tremor (etiology), Tremor (genetics), corticobasal syndrome, frontotemporal dementia, magnetic resonance imaging, mutation, tau Proteins (genetics), tauopathies.
MESH :
- chemical , genetics : tau Proteins.
- etiology : Tremor.
- genetics : Brain Diseases, Dementia, Parkinson Disease, Tauopathies, Tremor.
- pathology : Basal Ganglia, Cerebral Cortex.
- Adult, Amino Acid Substitution, Chromosomes, Human, Pair 17, Humans, Male.

Abstract

A few patients with mutations in the microtubule‐associated protein tau gene (MAPT), affected by frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17T), may clinically present with a corticobasal syndrome (CBS). We report a case of apparently sporadic CBS bearing a mutation in the MAPT gene so far associated with frontotemporal dementia (FTD) phenotype. The patient is a 41‐year‐old man with progressive asymmetric signs of cortical and basal ganglia involvement consistent with CBS. Magnetic resonance imaging showed asymmetric cortical atrophy and unusual corticospinal tract hyperintensity in T2‐weighted images. Genetic testing revealed a heterozygous G to C mutation at the first base of codon 389 of the MAPT gene, changing glycine to arginine (G389R), in the patient and his unaffected elderly father. In conclusion, the MAPT G389R mutation shows phenotypic variability resulting in both FTD and CBS. The mutation also demonstrates incomplete penetrance. Corticospinal tract degeneration is an exceptional finding. © 2008 Movement Disorder Society

Url:

https://api.istex.fr/document/0172F9C5058553C8D4004F45E390C55ED945DE77/fulltext/pdf

DOI: 10.1002/mds.21970

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Le document en format XML

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<front><div type="abstract" xml:lang="en">A few patients with mutations in the microtubule‐associated protein tau gene (MAPT), affected by frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17T), may clinically present with a corticobasal syndrome (CBS). We report a case of apparently sporadic CBS bearing a mutation in the MAPT gene so far associated with frontotemporal dementia (FTD) phenotype. The patient is a 41‐year‐old man with progressive asymmetric signs of cortical and basal ganglia involvement consistent with CBS. Magnetic resonance imaging showed asymmetric cortical atrophy and unusual corticospinal tract hyperintensity in T2‐weighted images. Genetic testing revealed a heterozygous G to C mutation at the first base of codon 389 of the MAPT gene, changing glycine to arginine (G389R), in the patient and his unaffected elderly father. In conclusion, the MAPT G389R mutation shows phenotypic variability resulting in both FTD and CBS. The mutation also demonstrates incomplete penetrance. Corticospinal tract degeneration is an exceptional finding. © 2008 Movement Disorder Society</div>
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<author><name sortKey="Basile, Anna Maria" sort="Basile, Anna Maria" uniqKey="Basile A" first="Anna Maria" last="Basile">Anna Maria Basile</name>
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<placeName><settlement type="city">Milan</settlement>
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</author>
<author><name sortKey="Tagliavini, Fabrizio" sort="Tagliavini, Fabrizio" uniqKey="Tagliavini F" first="Fabrizio" last="Tagliavini">Fabrizio Tagliavini</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Division of Neuropathology, IRCCS Foundation, "C. Besta" Neurological Institute</s1>
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<country>Italie</country>
<placeName><settlement type="city">Milan</settlement>
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<author><name sortKey="Pareyson, Davide" sort="Pareyson, Davide" uniqKey="Pareyson D" first="Davide" last="Pareyson">Davide Pareyson</name>
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<series><title level="j" type="main">Movement disorders</title>
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<front><div type="abstract" xml:lang="en">A few patients with mutations in the microtubule-associated protein tau gene (MAPT), affected by frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17T), may clinically present with a corticobasal syndrome (CBS). We report a case of apparently sporadic CBS bearing a mutation in the MAPT gene so far associated with frontotemporal dementia (FTD) phenotype. The patient is a 41-year-old man with progressive asymmetric signs of cortical and basal ganglia involvement consistent with CBS. Magnetic resonance imaging showed asymmetric cortical atrophy and unusual corticospinal tract hyperintensity in T2-weighted images. Genetic testing revealed a heterozygous G to C mutation at the first base of codon 389 of the MAPT gene, changing glycine to arginine (G389R), in the patient and his unaffected elderly father. In conclusion, the MAPT G389R mutation shows phenotypic variability resulting in both FTD and CBS. The mutation also demonstrates incomplete penetrance. Corticospinal tract degeneration is an exceptional finding.</div>
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<author><name sortKey="Laura, Matilde" sort="Laura, Matilde" uniqKey="Laura M" first="Matilde" last="Laurà">Matilde Laurà</name>
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<term>Cerebral Cortex (pathology)</term>
<term>Chromosomes, Human, Pair 17</term>
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<front><div type="abstract" xml:lang="en">A few patients with mutations in the microtubule‐associated protein tau gene (MAPT), affected by frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP‐17T), may clinically present with a corticobasal syndrome (CBS). We report a case of apparently sporadic CBS bearing a mutation in the MAPT gene so far associated with frontotemporal dementia (FTD) phenotype. The patient is a 41‐year‐old man with progressive asymmetric signs of cortical and basal ganglia involvement consistent with CBS. Magnetic resonance imaging showed asymmetric cortical atrophy and unusual corticospinal tract hyperintensity in T2‐weighted images. Genetic testing revealed a heterozygous G to C mutation at the first base of codon 389 of the MAPT gene, changing glycine to arginine (G389R), in the patient and his unaffected elderly father. In conclusion, the MAPT G389R mutation shows phenotypic variability resulting in both FTD and CBS. The mutation also demonstrates incomplete penetrance. Corticospinal tract degeneration is an exceptional finding. © 2008 Movement Disorder Society</div>
</front>
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	Movement Disorders (revue)
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Movement Disorders (revue)

The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome

The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome

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