Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: A bridge to amyotrophic lateral sclerosis
Articolo
Data di Pubblicazione:
2014
Citazione:
Heterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: A bridge to amyotrophic lateral sclerosis / E. Dalla Bella, A. Rigamonti, V. Mantero, M. Morbin, S. Saccucci, C. Gellera, G. Mora, G. Lauria. - In: JOURNAL OF NEUROLOGY, NEUROSURGERY AND PSYCHIATRY. - ISSN 0022-3050. - 85:9(2014 Sep), pp. 1009-1011. [10.1136/jnnp-2013-307416]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
ALS; neuropathy; neurophysiol, clinical; trigeminal nerve; amyotrophic lateral sclerosis; atrophy; genetic predisposition to disease; humans; male; middle aged; motor neuron disease; muscle weakness; mutation; nerve fibers; neural conduction; reflex; superoxide dismutase; superoxide dismutase-1; sural nerve; syndrome; heterozygote; surgery; arts and humanities (miscellaneous); neurology (clinical); psychiatry and mental health
Elenco autori:
E. Dalla Bella, A. Rigamonti, V. Mantero, M. Morbin, S. Saccucci, C. Gellera, G. Mora, G. Lauria
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