The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome.
Identifieur interne : 002061 ( Ncbi/Curation ); précédent : 002060; suivant : 002062The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome.
Auteurs : Giacomina Rossi [Italie] ; Cecilia Marelli ; Laura Farina ; Matilde Laurà ; Anna Maria Basile ; Claudia Ciano ; Fabrizio Tagliavini ; Davide PareysonSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2008.
English descriptors
- KwdEn :
- 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.
DOI: 10.1002/mds.21970
PubMed: 18307268
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome.</title><author><name sortKey="Rossi, Giacomina" sort="Rossi, Giacomina" uniqKey="Rossi G" first="Giacomina" last="Rossi">Giacomina Rossi</name><affiliation wicri:level="3"><nlm:affiliation>Division of Neuropathology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Neuropathology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name></author><author><name sortKey="Farina, Laura" sort="Farina, Laura" uniqKey="Farina L" first="Laura" last="Farina">Laura Farina</name></author><author><name sortKey="Laura, Matilde" sort="Laura, Matilde" uniqKey="Laura M" first="Matilde" last="Laurà">Matilde Laurà</name></author><author><name sortKey="Maria Basile, Anna" sort="Maria Basile, Anna" uniqKey="Maria Basile A" first="Anna" last="Maria Basile">Anna Maria Basile</name></author><author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name></author><author><name sortKey="Tagliavini, Fabrizio" sort="Tagliavini, Fabrizio" uniqKey="Tagliavini F" first="Fabrizio" last="Tagliavini">Fabrizio Tagliavini</name></author><author><name sortKey="Pareyson, Davide" sort="Pareyson, Davide" uniqKey="Pareyson D" first="Davide" last="Pareyson">Davide Pareyson</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.21970</idno><idno type="RBID">pubmed:18307268</idno><idno type="pmid">18307268</idno><idno type="wicri:Area/PubMed/Corpus">002300</idno><idno type="wicri:Area/PubMed/Curation">002300</idno><idno type="wicri:Area/PubMed/Checkpoint">002057</idno><idno type="wicri:Area/Ncbi/Merge">002061</idno><idno type="wicri:Area/Ncbi/Curation">002061</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome.</title><author><name sortKey="Rossi, Giacomina" sort="Rossi, Giacomina" uniqKey="Rossi G" first="Giacomina" last="Rossi">Giacomina Rossi</name><affiliation wicri:level="3"><nlm:affiliation>Division of Neuropathology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Neuropathology, IRCCS Foundation, "C. Besta" Neurological Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name></author><author><name sortKey="Farina, Laura" sort="Farina, Laura" uniqKey="Farina L" first="Laura" last="Farina">Laura Farina</name></author><author><name sortKey="Laura, Matilde" sort="Laura, Matilde" uniqKey="Laura M" first="Matilde" last="Laurà">Matilde Laurà</name></author><author><name sortKey="Maria Basile, Anna" sort="Maria Basile, Anna" uniqKey="Maria Basile A" first="Anna" last="Maria Basile">Anna Maria Basile</name></author><author><name sortKey="Ciano, Claudia" sort="Ciano, Claudia" uniqKey="Ciano C" first="Claudia" last="Ciano">Claudia Ciano</name></author><author><name sortKey="Tagliavini, Fabrizio" sort="Tagliavini, Fabrizio" uniqKey="Tagliavini F" first="Fabrizio" last="Tagliavini">Fabrizio Tagliavini</name></author><author><name sortKey="Pareyson, Davide" sort="Pareyson, Davide" uniqKey="Pareyson D" first="Davide" last="Pareyson">Davide Pareyson</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Amino Acid Substitution</term><term>Basal Ganglia (pathology)</term><term>Brain Diseases (genetics)</term><term>Cerebral Cortex (pathology)</term><term>Chromosomes, Human, Pair 17</term><term>Dementia (genetics)</term><term>Humans</term><term>Male</term><term>Parkinson Disease (genetics)</term><term>Tauopathies (genetics)</term><term>Tremor (etiology)</term><term>Tremor (genetics)</term><term>tau Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>tau Proteins</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Brain Diseases</term><term>Dementia</term><term>Parkinson Disease</term><term>Tauopathies</term><term>Tremor</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Basal Ganglia</term><term>Cerebral Cortex</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Amino Acid Substitution</term><term>Chromosomes, Human, Pair 17</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><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></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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