Document Detail

A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA.
MedLine Citation:
PMID:  16717204     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To follow the clinical course of patients with the mitochondrial DNA mutation 3243A>G for 3 years. METHODS: Thirty-three adult patients with the 3243A>G mutation entered a 3-year follow-up study. They were clinically evaluated annually, audiometry was performed, and samples were drawn for the analysis of blood chemistry and mutation heteroplasmy in leukocytes. Holter recording was performed three times during the follow-up and echocardiography, neuropsychological assessment, and quantitative EEG and brain imaging conducted at entry and after 3 years. RESULTS: The incidence of new neurologic events was low during the 3-year follow-up. Sensorineural hearing impairment (SNHI) progressed, left ventricular wall thickness increased, mean alpha frequency in the occipital and parietal regions decreased, and the severity of disease index (modified Rankin score) progressed significantly. The rate of SNHI progression correlated with mutation heteroplasmy in muscle. The increase in left ventricular wall thickness was seen almost exclusively in diabetic patients. Seven patients died during the follow-up, and they were generally more severely affected than those who survived. CONCLUSIONS: Significant changes in the severity of disease, sensorineural hearing impairment, left ventricular hypertrophy, and quantitative EEG were seen in adult patients with 3243A>G during the 3-year follow-up.
K A M Majamaa-Voltti; S Winqvist; A M Remes; U Tolonen; J Pyhtinen; S Uimonen; M Kärppä; M Sorri; K Peuhkurinen; K Majamaa
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neurology     Volume:  66     ISSN:  1526-632X     ISO Abbreviation:  Neurology     Publication Date:  2006 May 
Date Detail:
Created Date:  2006-05-23     Completed Date:  2006-06-28     Revised Date:  2007-01-30    
Medline Journal Info:
Nlm Unique ID:  0401060     Medline TA:  Neurology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1470-5     Citation Subset:  AIM; IM    
Department of Internal Medicine, University of Oulu, Oulu, Finland.
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MeSH Terms
Blood Glucose / analysis
Cognition Disorders / genetics
DNA, Mitochondrial / genetics*
Diabetes Mellitus / blood,  genetics
Disease Progression
Electrocardiography, Ambulatory
Finland / epidemiology
Follow-Up Studies
Hearing Loss, Sensorineural / genetics
Hypertrophy, Left Ventricular / genetics,  ultrasonography
Lactates / blood
MELAS Syndrome / genetics*,  mortality
Middle Aged
Mitochondria, Muscle / metabolism
Neuropsychological Tests
Point Mutation*
Pyruvates / blood
Reg. No./Substance:
0/Blood Glucose; 0/DNA, Mitochondrial; 0/Lactates; 0/Pyruvates
Comment In:
Neurology. 2007 Jan 9;68(2):163-4   [PMID:  17210904 ]

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