Facial-Onset Sensory Motor Neuronopathy Syndrome is not Always Facial Onset
نویسندگان
چکیده
منابع مشابه
Facial Onset Sensory and Motor Neuronopathy: Further Evidence for a TDP-43 Proteinopathy
Three patients with the clinical and investigation features of facial onset sensory and motor neuronopathy (FOSMN) syndrome are presented, one of whom came to a post-mortem examination. This showed TDP-43-positive inclusions in the bulbar and spinal motor neurones as well as in the trigeminal nerve nuclei, consistent with a neurodegenerative pathogenesis. These data support the idea that at lea...
متن کاملHeterozygous D90A-SOD1 mutation in a patient with facial onset sensory motor neuronopathy (FOSMN) syndrome: a bridge to amyotrophic lateral sclerosis.
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 examin...
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ژورنال
عنوان ژورنال: Journal of Clinical Neurology
سال: 2020
ISSN: 1738-6586,2005-5013
DOI: 10.3988/jcn.2020.16.4.729