title: A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech.
abstract: The authors describe a case of corticobasal syndrome led by progressive apraxia of speech, associated with a novel mutation in exon 10 of the MAPT gene. Genetic bases for progressive apraxia of speech and corticobasal syndrome are only rarely described, and have not been described in conjunction.
authors.affiliation: Dementia Research Centre, Department of Neurodegenerative Disease, London, UK.
authors.forename: Charles R
authors.initials: CR
authors.lastname: Marshall
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
authors.forename: Rita
authors.initials: R
authors.lastname: Guerreiro
authors.affiliation: Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, UK.
authors.forename: Steffi
authors.initials: S
authors.lastname: Thust
authors.affiliation: Dementia Research Centre, Department of Neurodegenerative Disease, London, UK.
authors.forename: Phillip
authors.initials: P
authors.lastname: Fletcher
authors.affiliation: Dementia Research Centre, Department of Neurodegenerative Disease, London, UK.
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Rohrer
authors.affiliation: Dementia Research Centre, Department of Neurodegenerative Disease, London, UK.
authors.forename: Nick C
authors.initials: NC
authors.lastname: Fox
mesh_terms: D001072:Apraxias / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D001284:Atrophy; D001921:Brain / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009483:Neuropsychological Tests; D017421:Sequence Analysis; D013060:Speech; D016875:tau Proteins / Q000235:genetics*
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins
keywords: Corticobasal syndrome; frontotemporal dementia; microtubule-associated protein tau; progressive apraxia of speech