Document Detail

Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation.
MedLine Citation:
PMID:  17989367     Owner:  NLM     Status:  MEDLINE    
We report 3 patients with myoclonic epilepsy with ragged-red fibers (MERRF) diagnosed by mitochondrial A8344G mutation. Cerebellar ataxia was the first symptom in all patients. Conventional brain MR imaging showed atrophy of the superior cerebellar peduncles and the cerebellum in all patients and brain stem atrophy in 2 patients. In diffusion tensor analysis, fractional anisotropy of the superior cerebellar peduncles was mildly decreased in 1 patient. There was a discrepancy between clinical disabilities (severe) and radiologic abnormalities (mild). This discrepancy and atrophy of the superior cerebellar peduncles and the cerebellum may be important findings suggesting a diagnosis of MERRF.
S Ito; W Shirai; M Asahina; T Hattori
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-11-07
Journal Detail:
Title:  AJNR. American journal of neuroradiology     Volume:  29     ISSN:  1936-959X     ISO Abbreviation:  AJNR Am J Neuroradiol     Publication Date:  2008 Feb 
Date Detail:
Created Date:  2008-02-14     Completed Date:  2008-04-23     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  8003708     Medline TA:  AJNR Am J Neuroradiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  392-5     Citation Subset:  IM    
Department of Neurology, Graduate School of Medicine, Chiba University, Chiba, Japan.
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MeSH Terms
Brain Stem / pathology*
Cerebellum / pathology*
DNA, Mitochondrial / genetics*
Epilepsies, Myoclonic / genetics*,  pathology*
Genetic Predisposition to Disease / genetics
Magnetic Resonance Imaging / methods*
Middle Aged
Reg. No./Substance:
0/DNA, Mitochondrial

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