Eleonora Dalla Bella1, Andrea Rigamonti2, Vittorio Mantero2, Michela Morbin3, Stefania Saccucci3, Cinzia Gellera4, Gabriele Mora5, Giuseppe Lauria1. 1. Headache and Neuroalgology Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy. 2. Department of Neurology, Alessandro Manzoni General Hospital, Lecco, Italy. 3. Department of Neuropathology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy. 4. Clinical Pathology and Genetics Units, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy. 5. IRCCS Salvatore Maugeri Foundation, Milan, Italy.
Abstract
OBJECTIVE: To describe a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome associated with a heterozygous D90A mutation in superoxide dismutase (SOD1) gene. METHODS: The patient underwent neurological and neurophysiologic examinations, including blink and jaw reflexes, sural nerve and skin biopsies, and analysis of TARDBP, FUS and C9ORF72 genes. RESULTS: Neurological examination showed diffuse fasciculations, bulbar signs, hypotrophy and weakness of facial, neck, shoulder girdle and first interosseus muscles, and absent corneal reflex. Neurophysiologic studies demonstrated abnormal blink and jaw reflexes and reduced sensory nerve action potentials at upper limbs. Sural nerve and skin biopsies revealed mild loss of large and small nerve fibres. Genetic analysis demonstrated a heterozygous D90A-SOD1 mutation. CONCLUSIONS: FOSMN syndrome has been recently described in patients with slowly progressive bulbar and upper limb amyotrophy. Sensory symptoms, mainly involving the trigeminal territory, typically precede the onset of motor weakness by months or years. The pathogenesis of FOSMN syndrome is unknown and possible immune-mediated mechanisms have been claimed. Our findings support the hypothesis that FOSMN syndrome is a primary degenerative disorder that widens the spectrum of motor neuron diseases. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
OBJECTIVE: To describe a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome associated with a heterozygous D90A mutation in superoxide dismutase (SOD1) gene. METHODS: The patient underwent neurological and neurophysiologic examinations, including blink and jaw reflexes, sural nerve and skin biopsies, and analysis of TARDBP, FUS and C9ORF72 genes. RESULTS: Neurological examination showed diffuse fasciculations, bulbar signs, hypotrophy and weakness of facial, neck, shoulder girdle and first interosseus muscles, and absent corneal reflex. Neurophysiologic studies demonstrated abnormal blink and jaw reflexes and reduced sensory nerve action potentials at upper limbs. Sural nerve and skin biopsies revealed mild loss of large and small nerve fibres. Genetic analysis demonstrated a heterozygous D90A-SOD1 mutation. CONCLUSIONS:FOSMN syndrome has been recently described in patients with slowly progressive bulbar and upper limb amyotrophy. Sensory symptoms, mainly involving the trigeminal territory, typically precede the onset of motor weakness by months or years. The pathogenesis of FOSMN syndrome is unknown and possible immune-mediated mechanisms have been claimed. Our findings support the hypothesis that FOSMN syndrome is a primary degenerative disorder that widens the spectrum of motor neuron diseases. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.
Authors: Giorgio Cruccu; Elena M Pennisi; Giovanni Antonini; Antonella Biasiotta; Giulia di Stefano; Silvia La Cesa; Caterina Leone; Salvatore Raffa; Claudia Sommer; Andrea Truini Journal: BMC Neurol Date: 2014-12-19 Impact factor: 2.474
Authors: Eva M J de Boer; Andrew W Barritt; Marwa Elamin; Stuart J Anderson; Rebecca Broad; Angus Nisbet; H Stephan Goedee; Juan F Vázquez Costa; Johannes Prudlo; Christian A Vedeler; Julio Pardo Fernandez; Mónica Povedano Panades; Maria A Albertí Aguilo; Eleonora Dalla Bella; Giuseppe Lauria; Wladimir B V R Pinto; Paulo V S de Souza; Acary S B Oliveira; Camilo Toro; Joost van Iersel; Malu Parson; Oliver Harschnitz; Leonard H van den Berg; Jan H Veldink; Ammar Al-Chalabi; Peter N Leigh; Michael A van Es Journal: Neurol Clin Pract Date: 2021-04
Authors: Besa Ziso; Tim L Williams; R Jon L Walters; Stephan R Jaiser; Johannes Attems; Udo C Wieshmann; A J Larner; Anu Jacob Journal: Case Rep Neurol Date: 2015-04-23