No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
Genetic factors play a major role in the etiology of juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, but so far, genes related to JME remain largely unknown. JME shares electroclinical features with Unverricht-Lundborg disease (progressive myoclonic epilepsy type 1; EPM1), a form of progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and gradual neurologic deterioration. EPM1 is caused by mutations in the gene that codes for cystatin B (CSTB), an inhibitor of cysteine protease. In the present study, we wished to investigate the role of the CSTB gene in patients with JME. Fifty-seven unrelated patients (35 women; mean age ± standard deviation [SD], 24.1 ± 7.7; mean age ± SD at onset, 15.3 ± 2.4) with JME were enrolled. Twenty-three of 57 patients were the probands of families with JME. The molecular diagnosis was carried out to identify the common dodecamer repeat expansion mutation or other disease-causing mutations in the CSTB gene. The molecular analysis did not depict mutations in any of the 57 patients with JME. Our study did not support a role for the CSTB gene in patients with familial or sporadic JME.
Institute of Neurology, University Magna Graecia Catanzaro, Catanzaro, Italy.
Laura
L
Mumoli
Patrizia
P
Tarantino
Roberto
R
Michelucci
Amedeo
A
Bianchi
Angelo
A
Labate
Silvana
S
Franceschetti
Carla
C
Marini
Pasquale
P
Striano
Monica
M
Gagliardi
Edoardo
E
Ferlazzo
Vito
V
Sofia
Loredana
L
Pennese
Grazia
G
Annesi
Umberto
U
Aguglia
Renzo
R
Guerrini
Federico
F
Zara
Antonio
A
Gambardella
D000293:Adolescent; D000328:Adult; D055313:Cystatin B / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D020190:Myoclonic Epilepsy, Juvenile / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
C524994:CSTB protein, human; D055313:Cystatin B
Cystatin B gene; EPM1; Genetics; Juvenile myoclonic epilepsy; Mutation