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

Eva M J De Boer ,Maria A Albertí Aguilo,Marwa Elamin,Malu Parson,Giuseppe Lauria,Johannes Prudlo,Joost Van Iersel,Michael A Van Es,Wladimir B.V.R Pinto,Eleonora Dalla Bella,Jan H Veldink,Julio Pardo Fernandez,Camilo Toro,Angus Nisbet,Oliver Harschnitz,Rebecca Broad,Christian A Vedeler,H Stephan Goedee,Paulo Victor Sgobbi De Souza ,Stuart Anderson ,Acary Sb Oliveira ,Ammar Al‐Chalabi ,Leonard H Van Den Berg ,Mónica Povedano Panadés ,Andrew W Barritt ,P Nigel Leigh ,Juan Francisco Vázquez-Costa

doi:10.1212/cpj.0000000000000834

Abstract

Purpose of ReviewTo improve our clinical understanding of facial onset sensory and motor neuronopathy (FOSMN).Recent FindingsWe 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 autoantibodies, there is no consistent evidence to suggest an autoimmune pathogenesis. Four of 6 autopsies had TAR DNA-binding protein (TDP) 43 pathology. Seven cases had genetic mutations associated with neurodegenerative diseases.SummaryFOSMN is a rare disease with a highly characteristic onset and pattern of disease progression involving initial sensory disturbances, followed by bulbar weakness with a cranial to caudal spread of pathology. Although not conclusive, the balance of evidence suggests that FOSMN is most likely to be a TDP-43 proteinopathy within the amyotrophic lateral sclerosis–FTD spectrum.

Highlights

The balance of evidence suggests that facial onset sensory and motor neuronopathy (FOSMN) is most likely to be a TAR DNA-binding protein (TDP)-43 proteinopathy within the amyotrophic lateral sclerosis–frontotemporal dementia (FTD) spectrum
Facial onset sensory and motor neuronopathy (FOSMN) is a rare neurologic syndrome first described by Vucic et al in 2006.1 It has a characteristic phenotype with paresthesia and
Updated Case Series and Clinical Findings We identified a total of 29 incident cases

Summary

Objectives

The objective of this study is to expand our understanding of FOSMN by evaluating clinical findings and the natural history of the disease in a larger sample than hitherto available and to review the current literature

Methods

Results

Discussion

Conclusion