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Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations

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Abstract

It has been shown that different genes could be associated with distinctive clinical and radiological phenotypes of FTD. TARDBP gene has been described worldwide in few cases of FTD so its phenotype is still unclear. The objective is to study the clinical and radiological characteristics of TARDBP-related FTD. In the present study, we report clinical, neuropsychological and radiological features of five new Sardinian non-related cases of FTD carriers of the p.A382T TARDBP mutation. Furthermore, we reviewed non-related FTD cases with TARDBP mutations previously described in literature. The p.A382T missense mutation of TARDBP was present in the 21.7 % of familial cases of our FTD cohort (5/23) and in no one of the sporadic patients. 3 of 5 patients showed a temporal variant FTD and 4/5 a predominant temporal involvement at MRI. The review of the literature of FTD cases with TARDBP mutations showed that in 5 of 16 cases, the clinical phenotype was consistent with temporal variant of FTD or semantic dementia (31 %) and in 7 of 16 cases neuroimaging showed predominant temporal lobe involvement (43.7 %). Our study further supports the pathogenetic role of TARDBP mutations in pure FTD and in the full spectrum of FTD/ALS. The presence of a predominant temporal lobe involvement in a high percentage of FTD mutated patients with a peculiar clinical pattern could be useful in the differential diagnosis with other forms of dementia/FTD both sporadic and familial.

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Acknowledgments

We would like to thank Daniela Fara for her help with scanning MRI images.

Conflicts of interest

The authors have no conflicts of interest.

Ethical standard

The patients and their relatives gave their informed consent prior to their inclusion in the study. The study has been approved by the Ethical Committee of our institution and in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

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Authors and Affiliations

  1. Department of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Sst 554, 09042, Cagliari, Monserrato, Italy

    Gianluca Floris, Giuseppe Borghero, Antonino Cannas, Francesca Di Stefano & Francesco Marrosu

  2. Multiple Sclerosis Center Laboratory, University of Cagliari, 09126, Cagliari, Italy

    Maria R. Murru, Daniela Corongiu, Stefania Cuccu, Stefania Tranquilli & Maria G. Marrosu

  3. Department of Radiology, University of Cagliari, 09042, Cagliari, Italy

    Maria V. Cherchi

  4. Department of Nuclear Medicine, University of Cagliari, 09042, Cagliari, Italy

    Alessandra Serra & Gianluigi Loi

  5. ALS Center ‘Rita Levi Montalcini’ Department of Neuroscience, University of Torino AOU Città della Salute e della Scienza, Torino and Neuroscience Institute of Torino (NIT), 10126, Turin, Italy

    Adriano Chiò

Authors
  1. Gianluca Floris
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  2. Giuseppe Borghero
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  4. Francesca Di Stefano
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  6. Daniela Corongiu
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  7. Stefania Cuccu
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  8. Stefania Tranquilli
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  9. Maria V. Cherchi
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  10. Alessandra Serra
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  11. Gianluigi Loi
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  12. Maria G. Marrosu
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  13. Adriano Chiò
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  14. Francesco Marrosu
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Correspondence to Gianluca Floris.

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Floris, G., Borghero, G., Cannas, A. et al. Clinical phenotypes and radiological findings in frontotemporal dementia related to TARDBP mutations. J Neurol 262, 375–384 (2015). https://doi.org/10.1007/s00415-014-7575-5

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  • DOI: https://doi.org/10.1007/s00415-014-7575-5

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