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Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia

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Abstract

A clinical and molecular overlap between Alzheimer’s disease (AD) and frontotemporal dementia (FTD) has been reported. Presenilins have been associated with FTD or with FTD-like phenotype, while mutations in the MAPT gene have been linked to a clinical phenotype of AD. We performed a clinical and genetic examination in two FTD siblings and their family tree has been reconstructed. We identified a novel Val75Ala MAPT mutation in one patient and in the other the Arg62His Presenilin2 mutation. The DNA variations identified, defined mutations by frequency, per se are not causative of the disease. These mutations, possibly in association with other unknown environmental and genetic factors, may contribute to neurodegeneration. In this family, the disease might result from a genetically interconnected spectrum of altered pathways that could link most neurodegenerative disorders. Moreover, the novel mutation identified merits further functional studies that would contribute to the unravelling of such a complex field.

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Acknowledgments

We thank all subjects participating to the study; the Associazione per la Ricerca Neurogenetica-ONLUS Lamezia Terme for invaluable help in assisting persons and families. This study was partially supported by finalized projects of the Italian Health Ministery: (1) DGRST no. 4/2760-P/I.9.ab, 2007; (2) RFPS-2006-7-334858, 2006.

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Authors and Affiliations

  1. Centro Regionale di Neurogenetica, Azienda Sanitaria Provinciale Catanzaro, Viale A. Perugini, 88046, Lamezia Terme (CZ), Italy

    Maura Gallo, Carmine Tomaino, Gianfranco Puccio, Francesca Frangipane, Sabrina A. M. Curcio, Livia Bernardi, Silvana Geracitano, Maria Anfossi, Maria Mirabelli, Rosanna Colao, Franca Vasso, Nicoletta Smirne, Raffaele G. Maletta & Amalia Cecilia Bruni

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  1. Maura Gallo
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  2. Carmine Tomaino
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  3. Gianfranco Puccio
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  4. Francesca Frangipane
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  5. Sabrina A. M. Curcio
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  6. Livia Bernardi
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  7. Silvana Geracitano
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  8. Maria Anfossi
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  9. Maria Mirabelli
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  10. Rosanna Colao
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  11. Franca Vasso
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  12. Nicoletta Smirne
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  13. Raffaele G. Maletta
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  14. Amalia Cecilia Bruni
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Corresponding author

Correspondence to Amalia Cecilia Bruni.

Additional information

M. Gallo and C. Tomaino contributed equally to this work.

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Gallo, M., Tomaino, C., Puccio, G. et al. Novel MAPT Val75Ala mutation and PSEN2 Arg62Hys in two siblings with frontotemporal dementia. Neurol Sci 31, 65–70 (2010). https://doi.org/10.1007/s10072-009-0132-9

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  • DOI: https://doi.org/10.1007/s10072-009-0132-9

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