Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: A bridge to amyotrophic lateral sclerosis

Eleonora Dalla Bella, Andrea Rigamonti, Vittorio Mantero, Michela Morbin, Stefania Saccucci, Cinzia Gellera, Gabriele Mora, Giuseppe Lauria

Research output: Contribution to journalArticle

19 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1009-1011
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume85
Issue number9
DOIs
Publication statusPublished - 2014

Fingerprint

Amyotrophic Lateral Sclerosis
Blinking
Abnormal Reflexes
Sural Nerve
Mutation
Neurologic Examination
Jaw
Upper Extremity
Fasciculation
Biopsy
Motor Neuron Disease
Skin
Nerve Fibers
Genes
Action Potentials
Superoxide Dismutase
Neck
Muscles
Onset
Syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Surgery
  • Arts and Humanities (miscellaneous)

Cite this

Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome : A bridge to amyotrophic lateral sclerosis. / Dalla Bella, Eleonora; Rigamonti, Andrea; Mantero, Vittorio; Morbin, Michela; Saccucci, Stefania; Gellera, Cinzia; Mora, Gabriele; Lauria, Giuseppe.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 85, No. 9, 2014, p. 1009-1011.

Research output: Contribution to journalArticle

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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.",
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AU - Mantero, Vittorio

AU - Morbin, Michela

AU - Saccucci, Stefania

AU - Gellera, Cinzia

AU - Mora, Gabriele

AU - Lauria, Giuseppe

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