Distinctive cerebral neuropathology in an adult case of SANDO syndrome.

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. This article is protected by copyright. All rights reserved.

Citation

Daniel Kirschenbaum, Carola Hedberg-Oldfors, Anders Oldfors, Eduard Scherer, Herbert Budka. Distinctive cerebral neuropathology in an adult case of SANDO syndrome. Neuropathology and applied neurobiology. 2017 Aug 09

PMID: 28792617

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