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

Giacomina Rossi, Cecilia Marelli, Laura Farina, Matilde Laurà, Anna Maria Basile, Claudia Ciano, Fabrizio Tagliavini, Davide Pareyson

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)893-896
Number of pages4
JournalMovement Disorders
Volume23
Issue number6
DOIs
Publication statusPublished - Apr 30 2008

Fingerprint

Microtubule-Associated Proteins
Frontotemporal Dementia
Mutation
Genes
Pyramidal Tracts
Chromosomes, Human, Pair 17
Penetrance
Genetic Testing
Parkinsonian Disorders
Basal Ganglia
Codon
Fathers
Glycine
Atrophy
Arginine
Magnetic Resonance Imaging
Phenotype

Keywords

  • Corticobasal syndrome
  • Magnetic resonance imaging
  • Mutation frontotemporal dementia
  • Tauopathies

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome. / Rossi, Giacomina; Marelli, Cecilia; Farina, Laura; Laurà, Matilde; Basile, Anna Maria; Ciano, Claudia; Tagliavini, Fabrizio; Pareyson, Davide.

In: Movement Disorders, Vol. 23, No. 6, 30.04.2008, p. 893-896.

Research output: Contribution to journalArticle

Rossi, Giacomina ; Marelli, Cecilia ; Farina, Laura ; Laurà, Matilde ; Basile, Anna Maria ; Ciano, Claudia ; Tagliavini, Fabrizio ; Pareyson, Davide. / The G389R mutation in the MAPT gene presenting as sporadic corticobasal syndrome. In: Movement Disorders. 2008 ; Vol. 23, No. 6. pp. 893-896.
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AU - Basile, Anna Maria

AU - Ciano, Claudia

AU - Tagliavini, Fabrizio

AU - Pareyson, Davide

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AB - 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.

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