RGD Reference Report - Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. - Rat Genome Database

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Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.

Authors: Milone, M  Brunetti-Pierri, N  Tang, LY  Kumar, N  Mezei, MM  Josephs, K  Powell, S  Simpson, E  Wong, LJ 
Citation: Milone M, etal., Neuromuscul Disord. 2008 Aug;18(8):626-32. doi: 10.1016/j.nmd.2008.05.009. Epub 2008 Jun 27.
RGD ID: 8694282
Pubmed: PMID:18585914   (View Abstract at PubMed)
DOI: DOI:10.1016/j.nmd.2008.05.009   (Journal Full-text)

Mutations in POLG gene are responsible for a wide spectrum of clinical disorders with altered mitochondrial DNA (mtDNA) integrity, including mtDNA multiple deletions and depletion. Sensory ataxic neuropathy with ophthalmoparesis (SANDO) caused by mutations in POLG gene, fulfilling the clinical triad of sensory ataxic neuropathy, dysarthria and/or dysphagia and ophthalmoparesis, has described in a few reports. Here we described five cases of adult onset autosomal recessive sensory ataxic neuropathy with ophthalmoplegia. All patients had ataxia, neuropathy, myopathy, and progressive external ophthalmoplegia (PEO). The muscle pathology revealed ragged-red and cytochrome c oxidase (COX) negative fibers in three patients. However, deficiencies in the activities of mitochondrial respiratory chain enzyme complexes were not detected in any of the patients' muscle samples. Multiple deletions of mtDNA were detected in blood and muscle specimens but mtDNA depletion was not found. Due to these diagnostic difficulties, POLG-related syndromes are definitively diagnosed based on the presence of deleterious mutations in the POLG gene.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  IAGP 8694282DNA:missense mutations:cds:RGD 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  ISOPOLG (Homo sapiens)8694282; 8694282DNA:missense mutations:cds:RGD 

Objects Annotated

Genes (Rattus norvegicus)
Polg  (DNA polymerase gamma, catalytic subunit)

Genes (Mus musculus)
Polg  (polymerase (DNA directed), gamma)

Genes (Homo sapiens)
POLG  (DNA polymerase gamma, catalytic subunit)


Additional Information