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Facial Onset Sensory and Motor Neuronopathy: New Cases, Cognitive Changes, and Pathophysiology

Eva M J de Boer1, Andrew W Barritt1, Marwa Elamin1

  • 1Universitair Medisch Centrum Utrecht (EMJB, HSG, JI, MP, LHB, JHV, MAE), Department of Neurology, Utrecht, The Netherlands; Brighton and Sussex Medical School (AWB, ME, RB, PNL), Clinical Imaging Sciences Centre, Brighton, United Kingdom; Hurstwood Park Neurological Centre (AWB, ME, SJA, RB, AN), Haywards Heath, United Kingdom; Hospital Universitari i Politècnic La Fe (JFVC), ALS Unit, Department of Neurology, Valencia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) (JFVC), Madrid, Spain; Department of Neurology (JP), Rostock University Medical Center and German Center for Neurodegenerative Diseases (DZNE), Germany; Department of Neurology (CAV), Haukeland University Hospital and Department of Clinical Medicine, Bergen, Norway; Department of Neurology (JPF), Hospital Clínico Universitario de Santiago, Santiago, Spain; Department of Neurology (MPP, MAAA), Hospital Universitari de Bellvitge, Barcelona, Spain; ALS/MND Centre (EDB, GL), 3rd Neurology Unit, Fondazione IRCCS Institute Neurologico Carlo Besta, Milan, Italy; Department of Biomedical and Clinical Sciences "Luigi Sacco" (GL), University of Milan, Milan, Italy; Department of Neurology and Neurosurgery (WBVRP, PVSS, ASBO), Federal University of São Paulo (UNIFESP), São Paulo, Brazil; National Institutes of Health (CT), National Human Genome Research Institute, Bethesda, United States of America; Memorial Sloan Kettering Cancer Center (OH), NY; King's College Hospital NHS Foundation Trust (AA-C), London, United Kingdom; and Department of Neuroscience (PNL), Brighton and Sussex Medical School, Brighton, United Kingdom.

Neurology. Clinical Practice
|April 12, 2021
PubMed
Summary

Facial onset sensory and motor neuronopathy (FOSMN) is a rare neurodegenerative disease. New findings suggest FOSMN may be linked to TDP-43 proteinopathy and the amyotrophic lateral sclerosis-frontotemporal dementia spectrum.

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