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Familial Unverricht-Lundborg disease: a clinical, neurophysiologic, and genetic study
A Parmeggiani1, A E Lehesjoki, V Carelli
1Department of Child Neurology and Psychiatry, University of Bologna, Italy.
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.