Document Detail

High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes.
MedLine Citation:
PMID:  11453454     Owner:  NLM     Status:  MEDLINE    
Neuropathy, ataxia, and retinitis pigmentosa (NARP) syndrome and maternally inherited Leigh's syndrome have been associated with T8993G point mutations in the mitochondrial adenosine triphosphatase 6 gene. Typically, NARP syndrome is characterized by developmental delay, seizures, dementia, retinitis pigmentosa, ataxia, sensory neuropathy, and proximal weakness. Usually, there is a correlation between the percentage of mutated mitochondrial DNA and clinical severity, and when mutated mitochondrial DNA is > 90%, it is often seen with Leigh's syndrome. We now report a family with mitochondrial DNA T8993G mutation in eight living members, five with mutant mitochondrial DNA >90% and one with 20% mutant mitochondrial DNA. However, their clinical features include variable combinations of seizures, behavior problems, learning disability, mental retardation, sensorineural deafness, cerebellar ataxia, and proximal muscle weakness. No retinitis pigmentosa was found in all eight living members, including a 56-year-old grandmother. Only one dead female relative was diagnosed with Leigh's syndrome on the neuropathologic examination at age 22 years, when she died of an accident. High mitochondrial DNA T8993G mutation is not always associated with typical features of Leigh's and NARP syndromes.
C Y Tsao; J R Mendell; D Bartholomew
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of child neurology     Volume:  16     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2001 Jul 
Date Detail:
Created Date:  2001-07-16     Completed Date:  2001-12-04     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  533-5     Citation Subset:  IM    
Department of Pediatrics and Neurology, The Ohio State University, Columbus 43205, USA.
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MeSH Terms
Ataxia / genetics*
DNA, Mitochondrial / genetics*
Dementia / etiology
Developmental Disabilities / etiology
Leigh Disease / genetics*
Middle Aged
Peripheral Nervous System Diseases / genetics*
Point Mutation*
Retinitis Pigmentosa / genetics*
Seizures / etiology
Reg. No./Substance:
0/DNA, Mitochondrial

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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