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Case of familial amyotrophic lateral sclerosis showing gadolinium-enhanced cranial nerves on magnetic resonance imaging associated with rapid progression of facial nerve palsy
- Source :
- Neurology and Clinical Neuroscience. 2:54-56
- Publication Year :
- 2014
- Publisher :
- Wiley, 2014.
-
Abstract
- The evaluation of cranial nerves in magnetic resonance imaging (MRI) at early developmental stage has not been established in amyotrophic lateral sclerosis (ALS). A 23-year-old man with familial ALS developed peripheral facial nerve palsy, and showed the striking gadolinium enhancement on MRI in those nerves at an early stage. His symptoms progressed rapidly and he died approximately 3 months after onset. We identified a missense mutation in exon 1 of the Cu/Zn superoxide dismutase gene (SOD-1), resulting in a Cys6Gly (C6G) amino acid substitution. Based on the rapid progression and neurotoxicity resulting from SOD-1 protein aggregation, the gadolinium enhancement of facial nerves might be caused by the rapid Wallerian degeneration and blood–brain barrier disruption at the early phase of progression.
- Subjects :
- Pathology
medicine.medical_specialty
Wallerian degeneration
medicine.diagnostic_test
business.industry
Gadolinium
Cranial nerves
Neurotoxicity
chemistry.chemical_element
Magnetic resonance imaging
Anatomy
medicine.disease
Peripheral
Neurology
chemistry
medicine
Missense mutation
Neurology (clinical)
Amyotrophic lateral sclerosis
business
Subjects
Details
- ISSN :
- 20494173
- Volume :
- 2
- Database :
- OpenAIRE
- Journal :
- Neurology and Clinical Neuroscience
- Accession number :
- edsair.doi...........2bb3c87b3f1ce1e9d69a18d973237e60