| A 3-year clinical follow-up of adult patients with 3243A>G in mitochondrial DNA. | |
| | |
MedLine Citation:
|
PMID: 16717204 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
K A M Majamaa-Voltti; S Winqvist; A M Remes; U Tolonen; J Pyhtinen; S Uimonen; M Kärppä; M Sorri; K Peuhkurinen; K Majamaa |
Related Documents
:
|
10600024 - Timing of disease progression by quantitative eeg in alzheimer' s patients. 215604 - Trophoblastic disease with coexistent fetus: a sonographic and clinical spectrum. 9465284 - The long-term course of spike and wave complexes in the waking eeg of chronic schizophr... 6101304 - Juvenile metachromatic leukodystrophy. clinical, biochemical, and neuropathologic studi... 17689404 - Clinical investigation of acute spontaneous subdural hematoma cases. 18379154 - Itraconazole oral solution enhanced vincristine neurotoxicity in five patients with mal... |
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 |
Affiliation:
|
Department of Internal Medicine, University of Oulu, Oulu, Finland. kirsi.majamaa-voltti@oulu.fi |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Alleles Blood Glucose / analysis Cognition Disorders / genetics DNA, Mitochondrial / genetics* Diabetes Mellitus / blood, genetics Disease Progression Electrocardiography, Ambulatory Electroencephalography Female Finland / epidemiology Follow-Up Studies Hearing Loss, Sensorineural / genetics Humans Hypertrophy, Left Ventricular / genetics, ultrasonography Lactates / blood MELAS Syndrome / genetics*, mortality Male Middle Aged Mitochondria, Muscle / metabolism Mosaicism Neuropsychological Tests Point Mutation* Pyruvates / blood |
| Chemical | |
Reg. No./Substance:
|
0/Blood Glucose; 0/DNA, Mitochondrial; 0/Lactates; 0/Pyruvates |
| Comments/Corrections | |
Comment In:
|
Neurology. 2007 Jan 9;68(2):163-4
[PMID:
17210904
]
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Newcastle disease virus expressing H5 hemagglutinin gene protects chickens against Newcastle disease...
Next Document: Past adult lead exposure is linked to neurodegeneration measured by brain MRI.