REVIEW OPEN ACCESS Facial onset sensory and motor neuronopathy New cases, cognitive changes, and pathophysiology EvaM.J.deBoer,MD*,AndrewW.Barritt,MD,MRCP*,MarwaElamin,MD,PhD,StuartJ.Anderson,PhD, Correspondence Rebecca Broad, MD, PhD, Angus Nisbet, MD, PhD, H. Stephan Goedee, MD, PhD, Juan F. V´azquez Costa, MD, PhD, Dr. van Es
[email protected] Johannes Prudlo, MD, PhD, Christian A. Vedeler, MD, PhD, Julio Pardo Fernandez, MD, PhD, Monica´ Povedano Panades, MD, Maria A. Albert´ı Aguilo, MD, Eleonora Dalla Bella, MD, Giuseppe Lauria, MD, Wladimir B.V.R. Pinto, MD, Paulo V.S. de Souza, MD, Acary S.B. Oliveira, MD, PhD, Camilo Toro, MD, Joost van Iersel, BcS, Malu Parson, McS, Oliver Harschnitz, MD, PhD, Leonard H. van den Berg, MD, PhD, JanH.Veldink,MD,PhD,AmmarAl-Chalabi,MD,PhD,Peter N. Leigh, FMedSci, PhD, and Michael A. van Es, MD, PhD Neurology: Clinical Practice Month 2020 vol. 00 no. 00 1-11 doi:10.1212/CPJ.0000000000000834 Abstract Purpose of review To improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN). Recent findings We identified 29 new cases and 71 literature cases, resulting in a cohort of 100 patients with FOSMN. During follow-up, cognitive and behavioral changes became apparent in 8 patients, suggesting that changes within the spectrum of frontotemporal dementia (FTD) are a part of the natural history of FOSMN. Another new finding was chorea, seen in 6 cases. Despite reports of autoanti- bodies, there is no consistent evidence to suggest an autoimmune pathogenesis. Four of 6 autopsies had TAR DNA-binding protein (TDP) 43 pathology.