title: Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis.
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.
authors.affiliation: Headache and Neuroalgology Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Dalla Bella
authors.affiliation: Department of Neurology, Alessandro Manzoni General Hospital, Lecco, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Rigamonti
authors.affiliation: Department of Neurology, Alessandro Manzoni General Hospital, Lecco, Italy.
authors.forename: Vittorio
authors.initials: V
authors.lastname: Mantero
authors.affiliation: Department of Neuropathology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Morbin
authors.affiliation: Department of Neuropathology, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Saccucci
authors.affiliation: Clinical Pathology and Genetics Units, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gellera
authors.affiliation: IRCCS Salvatore Maugeri Foundation, Milan, Italy.
authors.forename: Gabriele
authors.initials: G
authors.lastname: Mora
authors.affiliation: Headache and Neuroalgology Unit, IRCCS Foundation, Carlo Besta Neurological Institute, Milan, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Lauria
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001284:Atrophy / Q000473:pathology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D018908:Muscle Weakness / Q000503:physiopathology; D009154:Mutation / Q000235:genetics*; D009412:Nerve Fibers / Q000473:pathology / Q000502:physiology; D009431:Neural Conduction / Q000502:physiology; D012018:Reflex / Q000502:physiology; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1; D013497:Sural Nerve / Q000503:physiopathology; D013577:Syndrome
chemical_list: C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1
keywords: ALS; Neuropathy; Neurophysiol, Clinical; Trigeminal Nerve