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Article

Autonomic failure in ALS with a novel <i>SOD1</i> gene mutation

11 Apr 2000

Abstract excerpt

The authors report a patient with ALS and a novel SOD1 gene mutation who was in the totally locked-in state and developed autonomic failure followed by sudden cardiac arrest. A neuropathologic study showed widespread multisystem degeneration, including involvement of the autonomic nuclei in the medulla and spinal cord. SOD1 gene analysis detected a missense mutation of V118L in exon 4. These findings show notable...

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PMID: 10751275
DOI: 10.1212/wnl.54.7.1534

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