RGD Reference Report - Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports. - Rat Genome Database

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Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.

Authors: Gati, I  Danielsson, O  Jonasson, J  Landtblom, AM 
Citation: Gati I, etal., Acta Myol. 2011 Dec;30(3):188-90.
RGD ID: 8694285
Pubmed: PMID:22616202   (View Abstract at PubMed)
PMCID: PMC3298093   (View Article at PubMed Central)

Case histories of two unrelated patients suffering from sensory ataxic neuropathy, dysarthria/dysphagia and external ophthalmoplegia (SANDO) are reported. Both patients showed compound heterozygosity for POLG1 gene mutations, and presented with symptom of the clinical characteristics of SANDO. A patient with a p.A467T and p.W748S, well-known mutations showed a progressive course with early onset and multisystem involvement, including symptoms characteristics for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The second patient showed a less well-known p.T251I and p.G848S mutations with late onset and dysphagia/dysarthria dominated, moderate symptoms. This later is the second published case history, when these POLG1 gene mutations are the possible background of late onset SANDO, dominantly presenting with bulbar symptoms.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  IAGP 8694285DNA:missense mutations:cds:p.A467T more ...RGD 
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  ISOPOLG (Homo sapiens)8694285; 8694285DNA:missense mutations:cds:p.A467T more ...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