Case report: coexistence of C9orf72 expansion and progranulin mutation in a case of genetic frontotemporal dementia-clinical features and neuroimaging correlates

J Neurol. 2023 Oct;270(10):5102-5109. doi: 10.1007/s00415-023-11839-3. Epub 2023 Jun 29.

Alma Ghirelli^{1

2

3}, Edoardo Gioele Spinelli^{1

4}, Elisa Canu¹, Teuta Domi⁵, Silvia Basaia¹, Veronica Castelnovo¹, Laura Pozzi⁵, Giuseppe Magnani², Francesca Caso², Paola Caroppo⁶, Sara Prioni⁶, Cristina Villa⁶, Nilo Riva⁵, Angelo Quattrini⁵, Paola Carrera⁷, Massimo Filippi^{1

2

3

4

8}, Federica Agosta^{9

10

11}

¹ Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy.
² Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
³ Vita-Salute San Raffaele University, Milan, Italy.
⁴ Neurorehabilitation Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy.
⁵ Experimental Neuropathology Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy.
⁶ Fondazione IRCCS Istituto Neurologico Carlo Besta, Unit of Neurology 5-Neuropathology, Milan, Italy.
⁷ Laboratory of Clinical Molecular Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.
⁸ Neurophysiology Service, IRCCS San Raffaele Scientific Institute, Milan, Italy.
⁹ Neuroimaging Research Unit, Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Via Olgettina, 60, 20132, Milan, Italy. agosta.federica@hsr.it.
¹⁰ Neurology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy. agosta.federica@hsr.it.
¹¹ Vita-Salute San Raffaele University, Milan, Italy. agosta.federica@hsr.it.

No abstract available

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