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Abstract #2614

MR neuroimaging and pons proton spectroscopy in type 1 narcolepsy

Stefania Evangelisti1, Claudia Testa2, Laura Ludovica Gramegna1,3, Fabio Pizza3,4, David Neil Manners1, Elena Antelmi3,4, Lia Talozzi1, Claudio Bianchini1, Giuseppe Plazzi3,4, Raffaele Lodi1,3, and Caterina Tonon1,3

1Department of Biomedical and NeuroMotor Sciences, Functional MR Unit, University of Bologna, Bologna, Italy, 2Department of Physics and Astronomy, University of Bologna, Bologna, Italy, 3IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy, 4Department of Biomedical and NeuroMotor Sciences, University of Bologna, Bologna, Italy

Narcolepsy type 1 (NT1) is a rare and life-long disease, characterized by central hypersomnia and cataplexy typically triggered by emotions. NT1 is linked to a selective loss of hypothalamic hypocretin neurons. To characterise neurodegeneration, we combined pons 1H-MRS and whole brain structural analysis in a large and homogenous sample of adult NT1 patients. 1H-MRS showed evidence of pontine neuronal dysfunction, consistent with its key role in REM sleep regulation. Grey matter loss was detected in brain regions implicated in the disease pathophysiology, including frontal-prefrontal cortices, putamen nuclei, thalami, hypothalamus, amygdalae, cerebellum, and widespread subtle tissue microstructural alterations were also found.

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