Familial Unverricht-Lundborg disease: a clinical, neurophysiologic, and genetic study.
OBJECTIVE
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
A
A
Department of Child Neurology and Psychiatry, University of Bologna, Italy.
Lehesjoki
A E
AE
Carelli
V
V
Posar
A
A
Santi
A
A
Santucci
M
M
Gobbi
G
G
Pini
A
A
Rossi
P G
PG
D000328:Adult; D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002891:Chromosomes, Human, Pair 21 / Q000737:chemistry / Q000235:genetics; D004569:Electroencephalography / Q000706:statistics & numerical data; D004831:Epilepsies, Myoclonic / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005190:Family; D005260:Female; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D014057:Tomography, X-Ray Computed
D005819:Genetic Markers