RGD Reference Report - Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation. - Rat Genome Database

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Infantile spasms with basal ganglia MRI hypersignal may reveal mitochondrial disorder due to T8993G MT DNA mutation.

Authors: Desguerre, I  Pinton, F  Nabbout, R  Moutard, ML  N'Guyen, S  Marsac, C  Ponsot, G  Dulac, O 
Citation: Desguerre I, etal., Neuropediatrics. 2003 Jun;34(5):265-9.
RGD ID: 5490291
Pubmed: PMID:14598233   (View Abstract at PubMed)
DOI: DOI:10.1055/s-2003-43258   (Journal Full-text)

PURPOSE: To report three cases of infantile spasms (IS) with an abnormal magnetic resonance imaging signal in the basal ganglia (Leigh-like syndrome), due to T8993G mt DNA mutation. PATIENTS AND RESULTS: The first sign was, at the end of the first year of life, IS in one case and the combination of IS with behavior changes in the two other cases. Video EEG polygraphy demonstrated both spasms and hypsarrhythmia, but no other kind of seizures. Vigabatrin or steroids controlled the spasms with a follow-up of several years. All 3 patients had hyperlactatorrhachia (3.47 to 7 mmol/l). Axial hypotonia and dystonia appeared by the end of the first year of life. As in cases with the NARP mutation and onset later in life, neuropathy and retinopathy could also be demonstrated. DISCUSSION: Although it is well established that symptomatic IS with hypsarrhythmia mainly result from cortical lesions, this epileptic encephalopathy may also be generated by lesions in the basal ganglia without evidence of cortical damage. This finding suggests that West syndrome is likely to be caused by age-related dysfunction at any level of a cortico-putaminal loop of hyperexcitability.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Maternally Inherited Leigh Syndrome  IAGP 5490291DNA:transversion: :m.8993T>G (human)RGD 
Maternally Inherited Leigh Syndrome  ISOMT-ATP6 (Homo sapiens)5490291; 5490291DNA:transversion: :m.8993T>G (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal caudate nucleus morphology  IAGP 5490291DNA:transversion: :m.8993T>GRGD 
Infantile spasms  IAGP 5490291DNA:transversion: :m.8993T>GRGD 
Irritability  IAGP 5490291DNA:transversion: :m.8993T>GRGD 
Objects Annotated

Genes (Rattus norvegicus)
Mt-atp6  (mitochondrially encoded ATP synthase membrane subunit 6)

Genes (Mus musculus)
mt-Atp6  (ATP synthase 6, mitochondrial)

Genes (Homo sapiens)
MT-ATP6  (mitochondrially encoded ATP synthase membrane subunit 6)


Additional Information