Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
BACKGROUND
Juvenile myoclonic epilepsy (JME), is an early-onset inherited generalized epilepsy which displays genetic heterogeneity, with at least 10 known loci. Another neurogenetic disease, dentato-rubro-pallido-luysian atrophy (DRPLA) presents three clinical phenotypes, one of which in Japanese displays many similarities to JME.


OBJECTIVE
The purpose of this study was to investigate whether the DRPLA gene is associated with JME in Caucasians.


METHODS
The CAG repeat polymorphism in the DRPLA gene, which is expanded in patients with DRPLA, was examined with polymerase chain reaction amplification in 107 individuals of Greek origin, including 24 patients with sporadic and 8 with familial JME, 25 healthy relatives and 50 healthy controls.


RESULTS
The repeat sizes of all studied individuals were within the normal range.


CONCLUSIONS
These results seem to exclude the DRPLA gene as a major candidate gene for JME in this European population.
First Department of Neurology, Eginition Hospital, University of Athens Medical School, Athens, Greece Cephalogenetics Research Center, Athens, Greece cyapijakis_ua_gr@yahoo.com.
Christos
C
Yapijakis
Department of Neurosurgery, University of Athens Medical School, Evangelismos Hospital, Athens, Greece.
Stergios
S
Gatzonis
First Department of Pediatrics, Agia Sophia Hospital, University of Athens Medical School, Athens, Greece.
Sotirios
S
Youroukos
Cephalogenetics Research Center, Athens, Greece.
Vasiliki
V
Kollia
Third Department of Neurology, Papanikolaou Hospital, Aristotelian University of Thessaloniki Medical School, Thessaloniki, Greece.
Stella
S
Karachristianou
First Department of Neurology, Eginition Hospital, University of Athens Medical School, Athens, Greece.
Maria
M
Anagnostouli
D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020190:Myoclonic Epilepsy, Juvenile / Q000453:epidemiology* / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D018911:Trinucleotide Repeats; D044465:White People / Q000235:genetics*; D055815:Young Adult
D009419:Nerve Tissue Proteins; C095278:atrophin-1
DRPLA; Greek population; Juvenile myoclonic epilepsy; dentato-rubro-pallido-luysian atrophy; trinucleotide repeat