| 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 |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
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 |
Affiliation:
|
Division of Neurology, Department of Neurosciences, Faculty of Medicine of Ribeirão Preto, São Paulo University, Ribeirão Preto-São Paulo, Brazil. csobreira@fmrp.usp.br |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Blood Chemical Analysis Brain / pathology DNA Mutational Analysis DNA, Mitochondrial / genetics* Disease Progression Follow-Up Studies Genes, Mitochondrial Humans Leigh Disease / genetics*, pathology, physiopathology* Magnetic Resonance Imaging Male Mitochondrial Proton-Translocating ATPases / genetics* Muscle, Skeletal / chemistry Mutation, Missense Syndrome Young Adult |
| Chemical | |
Reg. No./Substance:
|
0/DNA, Mitochondrial; EC 3.6.1.-/ATP synthase subunit 6; EC 3.6.3.-/Mitochondrial Proton-Translocating ATPases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: The value of cerebral Doppler venous haemodynamics in the assessment of multiple sclerosis.
Next Document: Assessment of ambulance dispatch data for surveillance of influenza-like illness in Melbourne, Austr...