New findings in facial-onset sensory and motor neuronopathy (FOSMN) syndrome.

Autor: Pinto WBVR; Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), rua Estado de Israel, 899 Vila Clementino, São Paulo, Brazil. Electronic address: wladimirbvrpinto@gmail.com., Naylor FGM; Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), rua Estado de Israel, 899 Vila Clementino, São Paulo, Brazil., Chieia MAT; Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), rua Estado de Israel, 899 Vila Clementino, São Paulo, Brazil., de Souza PVS; Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), rua Estado de Israel, 899 Vila Clementino, São Paulo, Brazil., Oliveira ASB; Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo (UNIFESP), rua Estado de Israel, 899 Vila Clementino, São Paulo, Brazil.
Jazyk: angličtina
Zdroj: Revue neurologique [Rev Neurol (Paris)] 2019 Apr; Vol. 175 (4), pp. 238-246. Date of Electronic Publication: 2018 Oct 05.
DOI: 10.1016/j.neurol.2018.04.010
Abstrakt: Facial-onset sensory and motor neuronopathy (FOSMN) syndrome represents a rare, slowly progressive, lower motor neuron disease with sensory compromise, involving mainly the face, bulbar region and upper limbs. However, non-motor symptoms and neurogenetic studies have rarely been evaluated in large case series. In the present study, 10 unrelated Brazilian patients with FOSMN syndrome underwent extensive clinical, laboratory, neurophysiological and neurogenetic assessment. Median age at symptom onset was 52.1 years, and men and women were equally affected. Patients presented with hemifacial or bilateral facial paresthesia and weakness, which evolved with dysphagia, dysphonia, and facial and tongue atrophy and, finally, a dropped-head, upper limb weakness and syringomyelia-like sensory disturbances in the upper limbs. All 10 patients showed chronic diffuse neurogenic compromise of bulbar, cervical and thoracic myotomes, and abnormal blink reflex tests. A positive family history of neurodegeneration was identified in six cases, and revealed pathogenic gene variants in three families (involving VCP, TARDBP and CHCHD10). Thus, our case series has revealed new findings regarding FOSMN syndrome: (i) its clinical course is not always benign, with poorer prognoses associated with dropped-head syndrome and early bulbar compromise; (ii) FOSMN syndrome may be part of a complex familial neurodegenerative spectrum; and (iii) a definite genetic basis may be observed in some cases.
(Copyright © 2018 Elsevier Masson SAS. All rights reserved.)
Databáze: MEDLINE
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