PT  - JOURNAL ARTICLE
AU  - Ito, S.
AU  - Shirai, W.
AU  - Asahina, M.
AU  - Hattori, T.
TI  - 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
AID  - 10.3174/ajnr.A0865
DP  - 2008 Feb 01
TA  - American Journal of Neuroradiology
PG  - 392--395
VI  - 29
IP  - 2
4099  - http://www.ajnr.org/content/29/2/392.short
4100  - http://www.ajnr.org/content/29/2/392.full
SO  - Am. J. Neuroradiol.2008 Feb 01; 29
AB  - SUMMARY: 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.