Purpose: Progressive myoclonus epilepsies (PMEs) are a clinically and etiologically heterogeneous group of disorders. The authors report clinical, neurophysiological, and genetic findings of a family from Southern Italy with three members affected with PME. Methods: All data about familial and personal antecedents, clinical history, neurologic examination, laboratory tests, neurophysiological findings, brain imaging studies, and DNA analysis were examined. Results: All results were compatible with the features of Unverricht-Lundborg disease and patients were homozygous for the 'Finnish' ancestral haplotype. Conclusions: Work is in progress to identify and characterize the common EPM1 mutation in the Finnish patients. Subsequently, it will be possible to verify the hypothesis on the existence of a common mutation in the Finnish patients and the Italian family under study, or even in other Mediterranean EPM1 families.
Parmeggiani Antonia, Lehesjoki A.-E., Carelli V., Posar A., Santi A., Santucci M., et al. (1997). Familial Unverricht-Lundborg disease: A clinical, neurophysiologic, and genetic study. EPILEPSIA, 38(6), 637-641 [10.1111/j.1528-1157.1997.tb01232.x].
Familial Unverricht-Lundborg disease: A clinical, neurophysiologic, and genetic study
Parmeggiani Antonia;Carelli V.;Posar A.;Santucci M.;Giovanardi Rossi Paola.
1997
Abstract
Purpose: Progressive myoclonus epilepsies (PMEs) are a clinically and etiologically heterogeneous group of disorders. The authors report clinical, neurophysiological, and genetic findings of a family from Southern Italy with three members affected with PME. Methods: All data about familial and personal antecedents, clinical history, neurologic examination, laboratory tests, neurophysiological findings, brain imaging studies, and DNA analysis were examined. Results: All results were compatible with the features of Unverricht-Lundborg disease and patients were homozygous for the 'Finnish' ancestral haplotype. Conclusions: Work is in progress to identify and characterize the common EPM1 mutation in the Finnish patients. Subsequently, it will be possible to verify the hypothesis on the existence of a common mutation in the Finnish patients and the Italian family under study, or even in other Mediterranean EPM1 families.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
