Document Detail

Leigh-like syndrome with the T8993G mutation in the mitochondrial ATPase 6 gene: long-term follow-up discloses a slowly progressive course.
MedLine Citation:
PMID:  19144360     Owner:  NLM     Status:  MEDLINE    
We describe the long-term clinical outcome of a patient with Leigh-like syndrome presenting as an early onset encephalopathy and peripheral neuropathy caused by the T8993G mutation in the mitochondrial DNA (mtDNA). Clinical follow-up for 20 years revealed a peculiar pattern of slow disease progression, characterized by the addition of new minor deficits, while worsening of previous symptoms was mild. Brain MRI revealed cerebellar atrophy, diffuse demyelination of corona radiata and parietal white matter, and bilateral and symmetrical putaminal lesions. The proportion of mutant mtDNAs in blood was 72% (+/-0.02%) and in skeletal muscle was 81% (+/-0.4%). Leigh-like syndrome caused by the T8993G mtDNA mutation is a progressive disease, although not necessarily associated with an aggressive clinical course.
Cláudia Sobreira; Wilson Marques; Octávio M Pontes Neto; Antônio Carlos Santos; João M Pina Neto; Amilton A Barreira
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-01-14
Journal Detail:
Title:  Journal of the neurological sciences     Volume:  278     ISSN:  0022-510X     ISO Abbreviation:  J. Neurol. Sci.     Publication Date:  2009 Mar 
Date Detail:
Created Date:  2009-02-02     Completed Date:  2009-05-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375403     Medline TA:  J Neurol Sci     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  132-4     Citation Subset:  IM    
Division of Neurology, Department of Neurosciences, Faculty of Medicine of Ribeirão Preto, São Paulo University, Ribeirão Preto-São Paulo, Brazil.
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MeSH Terms
Blood Chemical Analysis
Brain / pathology
DNA Mutational Analysis
DNA, Mitochondrial / genetics*
Disease Progression
Follow-Up Studies
Genes, Mitochondrial
Leigh Disease / genetics*,  pathology,  physiopathology*
Magnetic Resonance Imaging
Mitochondrial Proton-Translocating ATPases / genetics*
Muscle, Skeletal / chemistry
Mutation, Missense
Young Adult
Reg. No./Substance:
0/DNA, Mitochondrial; EC 3.6.1.-/ATP synthase subunit 6; EC 3.6.3.-/Mitochondrial Proton-Translocating ATPases

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