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Temporal variant of frontotemporal dementia in C9orf72 repeat expansion carriers: two case studies

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Abstract

The temporal variant of frontotemporal dementia (tv-FTD) is a progressive neurodegenerative disease with a complex clinical picture mainly characterized by behavioral and language disorders. In this work, we describe clinical, genetic, neuroanatomical and neuropathological (only in one case) features of two patients with tv-FTD carrying C9orf72 repeat expansion. The first patient (AB) presented with a 1-year disease duration showing focal right anterior temporal lobe (ATL) atrophy on magnetic resonance imaging (MRI). The second patient (BC) came to medical attention 13 years after disease onset and showed a prominent bilateral ATL involvement. Both patients showed naming deficits, impairment in identifying known faces and proper names, and personality changes with new onset behavioral rigidity, and progressing language difficulties to single-word and sentence comprehension difficulties. They were classified as tv-FTD. Clinical, cognitive and MRI follow-up were performed. As cognitive impairment progressed, MRI atrophy worsened in ATL and frontotemporal areas in both patients. Both cases had clear family histories of neurological and/or psychiatric disease. Genetic testing revealed a C9orf72 hexanucleotide repeat expansion in both cases. BC passed away after 15 years of disease and autopsy showed the expected TDP-type B pathology. These genetic cases of tv-FTD highlight the susceptibility of ATL to C9orf72-related pathology and emphasize the importance of genetical testing in FTD-spectrum disorders, regardless of the clinical phenotype.

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Acknowledgments

The authors thank the patients and their families for the time and effort they dedicated to research.

Funding

The study was partially supported by the Italian Ministry of Health (grant GR-2011-02351217) and within the framework of the Ivascomar project of the Italian Ministry of Research (CTN01_00177_165430), Cluster Tecnologico Nazionale Scienze della Vita “Alisei”, Italian Ministry of Research.

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Authors and Affiliations

  1. Neuroimaging Research Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS Ospedale San Raffaele, Via Olgettina, 60, 20132, Milan, Italy

    Francesca Caso, Federica Agosta & Massimo Filippi

  2. Neurology Unit, IRCCS Ospedale San Raffaele, Milan, Italy

    Francesca Caso, Giuseppe Magnani, Rosalinda Cardamone & Massimo Filippi

  3. Vita-Salute San Raffaele University, Milan, Italy

    Federica Agosta & Massimo Filippi

  4. Memory and Aging Center, University of California, San Francisco, CA, USA

    Valentina Borghesani, Zachary Miller, Renaud La Joie, Lea T. Grinberg, William W. Seeley, Bruce L. Miller & Maria Luisa Gorno-Tempini

  5. Neuropathology Unit, Institute of Experimental Neurology, Division of Neuroscience, IRCCS Ospedale San Raffaele, Milan, Italy

    Nilo Riva

  6. Department of Psychiatry, Semel Institute for Neuroscience and Human Behavior, University of California Los Angeles, Los Angeles, CA, USA

    Giovanni Coppola

  7. Department of Neurology, University of California Los Angeles, Los Angeles, CA, USA

    Giovanni Coppola

  8. Neurophysiology Unit, IRCCS Ospedale San Raffaele, Milan, Italy

    Massimo Filippi

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  1. Francesca Caso
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  2. Federica Agosta
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  3. Giuseppe Magnani
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  6. Zachary Miller
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  7. Nilo Riva
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  10. Lea T. Grinberg
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  11. William W. Seeley
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  12. Bruce L. Miller
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  13. Maria Luisa Gorno-Tempini
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  14. Massimo Filippi
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Correspondence to Massimo Filippi.

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Conflict of interest

F. Caso, G. Magnani, R. Cardamone, V. Borghesani, Z. Miller, N. Riva, R. La Joie, G. Coppola, L.T Grinberg, W.W. Seeley report no disclosures.

F. Agosta is Section Editor of NeuroImage: Clinical; has received speaker honoraria from Novartis, Biogen Idec and Philips; and receives or has received research supports from the Italian Ministry of Health, AriSLA (Fondazione Italiana di Ricerca per la SLA), and the European Research Council.

B.L. Miller receives grants in support of the Memory and Aging Center from the NIH/NIA, the Quest Diagnostics Dementia Pathway Collaboration, Cornell University and The Bluefield Project to Cure Frontotemporal Dementia. He serves as Medical Director for the John Douglas French Foundation; Scientific Director for the Tau Consortium; Director/Medical Advisory Board of the Larry L. Hillblom Foundation; and Past President of the International Society of Frontotemporal Dementia (ISFTD).

M.L. Gorno-Tempini is funded by the National Institute of Health (NIH) and the Charles Schwab foundation.

M. Filippi is Editor-in-Chief of the Journal of Neurology; received compensation for consulting services and/or speaking activities from Biogen Idec, Merck-Serono, Novartis, Teva Pharmaceutical Industries; and receives research support from Biogen Idec, Merck-Serono, Novartis, Teva Pharmaceutical Industries, Roche, Italian Ministry of Health, Fondazione Italiana Sclerosi Multipla, and ARiSLA (Fondazione Italiana di Ricerca per la SLA).

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Highlights

Two cases of tv-FTD with C9orf72 repeat expansion are described.

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Caso, F., Agosta, F., Magnani, G. et al. Temporal variant of frontotemporal dementia in C9orf72 repeat expansion carriers: two case studies. Brain Imaging and Behavior 14, 336–345 (2020). https://doi.org/10.1007/s11682-019-00253-x

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