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MAPT mutation associated with frontotemporal dementia and parkinsonism (FTDP-17)

Published online by Cambridge University Press:  01 December 2016

Robert Haussmann*
Affiliation:
Department of Psychiatry, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
Marek Wysocki
Affiliation:
Department of Psychiatry, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
Moritz D. Brandt
Affiliation:
Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
Andreas Hermann
Affiliation:
Department of Neurology, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany German Center for Neurodegenerative Diseases (DZNE), Research Site Dresden, Dresden, Germany
Markus Donix
Affiliation:
Department of Psychiatry, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany German Center for Neurodegenerative Diseases (DZNE), Research Site Dresden, Dresden, Germany
*
Correspondence should be addressed to: Robert Haussmann, MD, Fetscherstraße 74, 01307 Dresden, Germany. Phone: +49351-458-3561; Fax: +49351-458-5380. Email: robert.haussmann@uniklinikum-dresden.

Abstract

We present a 56-year-old patient suffering from frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). The history included a three-generation pedigree and the patient was found to be a mutation carrier. The diagnosis was hindered by late appearance of the hypokinetic movement disorder. For clinicians, it is important to consider rare neurodegenerative disease variants in early-onset familial dementia syndromes with behavioral, cognitive, and motor symptoms.

Type
Case Report
Copyright
Copyright © International Psychogeriatric Association 2016 

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References

Desikan, R. et al. (2015). Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Molecular Psychiatry 20, 15881595. doi: 10.1038/mp.2015.6.CrossRefGoogle ScholarPubMed
Hutton, M. et al. (1998). Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393, 702705. doi: 10.1038/31508.Google Scholar
Im, S., Kim, Y. E. and Kim, Y. J. (2015). Genetics of progressive supranuclear palsy. Journal of Movement Disorders, 8, 122129. doi: 10.14802/jmd.15033.Google Scholar
Irwin, D. (2015). Tauopathies as clinicopathological entities. Parkinsonism and Related Disorders, 22, 2933. doi: 10.1016/j.parkreldis.2015.09.020.Google Scholar
Kasuga, K. et al. (2015). Short communication - systematic review and meta-analysis of Japanese familial Alzheimer's disease and FTDP-17. Journal of Human Genetics, 60, 281283. doi: 10.1038/jhg.2015.15.CrossRefGoogle Scholar
Lambert, M. et al. (2014). Estimating the burden of early onset dementia; systematic review of disease prevalence. European Journal of Neurology, 21, 563569. doi: 10.1111/ene.12325.Google Scholar
Rademakers, R. et al. (2003). Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer's disease does not share a common founder in Western Europe. Human Mutation, 22, 409411. doi: 10.1002/humu.10269.Google Scholar
Reed, L., Wszolek, Z. K. and Hutton, M. (2001). Phenotypic correlations in FTDP-17. Neurobiol Aging 22, 89107. PMID: 11164280.Google Scholar
Sperfeld, A. et al. (1999). FTDP-17: an early-onset phenotype with parkinsonism and epileptic seizures caused by a novel mutation. Annals of Neurology, 46, 708715. PMID: 10553987.Google Scholar
Wszolek, Z., Tsuboi, Y., Ghetti, B., Pickering-Brown, S., Baba, Y. and Cheshire, W. P. (2006). Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Orphanet Journal of Rare Diseases, 30, 19. doi: 10.1186/1750-1172-1-30 Google Scholar