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Distinctive cerebral neuropathology in an adult case of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO) syndrome

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The syndrome of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO), defined genetically by mutations of the gene for the mitochondrial DNA polymerase-γ, POLG, was first described in 1997 (1).… Click to show full abstract

The syndrome of sensory ataxic neuropathy with dysarthria and ophthalmoplegia (SANDO), defined genetically by mutations of the gene for the mitochondrial DNA polymerase-γ, POLG, was first described in 1997 (1). Since then, several case reports with various POLG, or more rarely PEO1, mutations have been published (2-4), some specifically addressing muscle and nerve pathology (1, 3), nerve electrophysiology (5), or radiological aspects (4, 6, 7). This article is protected by copyright. All rights reserved.

Keywords: ataxic neuropathy; neuropathy dysarthria; ophthalmoplegia sando; sensory ataxic; dysarthria ophthalmoplegia

Journal Title: Neuropathology and Applied Neurobiology
Year Published: 2018

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