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 language | English |
|---|---|
| Pages (from-to) | 1009-1011 |
| Number of pages | 3 |
| Journal | Journal of Neurology, Neurosurgery and Psychiatry |
| Volume | 85 |
| Issue number | 9 |
| DOIs | |
| Publication status | Published - 2014 |
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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 journal › Article
}
TY - JOUR
T1 - Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome
T2 - A bridge to amyotrophic lateral sclerosis
AU - Dalla Bella, Eleonora
AU - Rigamonti, Andrea
AU - Mantero, Vittorio
AU - Morbin, Michela
AU - Saccucci, Stefania
AU - Gellera, Cinzia
AU - Mora, Gabriele
AU - Lauria, Giuseppe
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84905560834&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84905560834&partnerID=8YFLogxK
U2 - 10.1136/jnnp-2013-307416
DO - 10.1136/jnnp-2013-307416
M3 - Article
C2 - 24591457
AN - SCOPUS:84905560834
VL - 85
SP - 1009
EP - 1011
JO - Journal of Neurology, Neurosurgery and Psychiatry
JF - Journal of Neurology, Neurosurgery and Psychiatry
SN - 0022-3050
IS - 9
ER -