A Novel MAPT Mutation Causing Corticobasal Syndrome Led by Progressive Apraxia of Speech

Article type: Short Communication

Authors: Marshall, Charles R.^a | Guerreiro, Rita^b | Thust, Steffi^c | Fletcher, Phillip^a | Rohrer, Jonathan D.^a | Fox, Nick C.^{a; *}

Affiliations: [a] Dementia Research Centre, Department of Neurodegenerative Disease, London, UK | [b] Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK | [c] Department of Neuroradiology, National Hospital for Neurology and Neurosurgery, London, UK

Correspondence: [*] Correspondence to: Prof. Nick Fox, MD, Dementia Research Centre, Institute of Neurology, Queen Square, London WC1N 3BG, UK. Tel.: +44 0845 155 5000; [email protected]

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.

Keywords: Corticobasal syndrome, frontotemporal dementia, microtubule-associated protein tau, progressive apraxia of speech

DOI: 10.3233/JAD-150477

Journal: Journal of Alzheimer's Disease, vol. 48, no. 4, pp. 923-926, 2015