Progressive myoclonus epilepsy

Progressive myoclonus epilepsy (G + C)-rich oligonucleotide repeat Cystatin B... 

B12. Bespalova, I. N., Adkins, S., Pranzatelli, M., and Burmeister, M., Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. Am. 

LI. Lafreniere, R. G., Rochefort, D. L., Chretien, N., Rommens, J. M., Cochins, J. I., etal., Unstable insertion in the 5 flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nat. Genet. 15(3), 298—302 (1997). 

T. Saha and K. Usdin, Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat implications of instability in the repeat expansion diseases, FEES Lett., 2001, 491, 184-187. 

Minassian, BA lanzano, L Meloche, M Andermann, E Rouleau, GA Delgado-Escueta, AV et al. Mutation spectrum and predicted function of laforin in Lafora s progressive myoclonus epilepsy. Neurology, 2000, 55, 341-6. 

Myoclonic epilepsy with ragged-red fibers (MERPF) is a rare syndrome which shows clear maternal inheritance and a variable clinical pattern including progressive myoclonus, cerebellar ataxia, dementia, and muscle weakness. It is associated with an A-to-G transition at position 8344 of the tRNA Lys gene in the mtDNA. The mutation is heteroplasmic and produces similar multicomplex deficiencies as are seen in KSS. 

It has been hypothesized that the mechanisms whereby mefloquine increases the risk of seizures in patients with a history of seizures, which may be via altered neuronal calcium homeostasis, altered gap-junction functioning, and neuronal cell death, are particularly associated with a mutation in EPMl, a gene that is associated with progressive myoclonic epilepsy type 1, and hence altered GABA activity [10 ]. The author proposed that mefloquine should be contraindicated in people with the EPMl mutation and in those with a history of myoclonus or ataxia, or a family history of degenerative neurological disorders that are consistent with the presence of the EPMl mutation. 

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