Juvenile myoclonic epilepsy subsyndromes:: family studies and long-term follow-up

被引:119
作者
Martínez-Juárez, IE
Alonso, ME
Medina, MT
Durón, RM
Bailey, JN
López-Ruiz, M
Ramos-Ramírez, R
León, L
Pineda, G
Castroviejo, IP
Silva, R
Mija, L
Perez-Gosiengfiao, K
Machado-Salas, J
Delgado-Escueta, AV
机构
[1] Univ Calif Los Angeles, David Geffen Sch Med, Comprehens Epilepsy Program, Epilepsy Genet Genom Labs, Los Angeles, CA 90073 USA
[2] VA Los Angeles VA Med Ctr, VA GLAHS W Los Angeles, Epilepsy Ctr Excellence, Epilepsy Genet Genom Labs,Comprehens Epilepsy Pro, Los Angeles, CA 90073 USA
[3] Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst Neurosci, Los Angeles, CA 90073 USA
[4] Mexico Gen Hosp, Natl Inst Neurol & Neurosurg, Mexico City, DF, Mexico
[5] Mexico Gen Hosp, Neurol & Neurosurg Unit, Mexico City, DF, Mexico
[6] Angel Leanos Hosp, Guadalajara, Jalisco, Mexico
[7] Natl Autonomous Univ Honduras, Tegucigalpa, Honduras
[8] Univ Hosp La Paz, Madrid, Spain
[9] Nuestra Senora La Paz Hosp, San Miguel, El Salvador
[10] Inst Neurol Sci, Lima, Peru
关键词
juvenile myoclonic epilepsy; subtypes; follow-up; classification;
D O I
10.1093/brain/awl048
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The 2001 classification subcommittee of the International League Against Epilepsy (ILAE) proposed to 'group JME, juvenile absence epilepsy, and epilepsy with tonic clonic seizures only under the sole heading of idiopathic generalized epilepsies (IGE) with variable phenotype'. The implication is that juvenile myoclonic epilepsy (JME) does not exist as the sole phenotype of family members and that it should no longer be classified by itself or considered a distinct disease entity. Although recognized as a common form of epilepsy and presumed to be a lifelong trait, a long-term follow-up of JME has not been performed. To address these two issues, we studied 257 prospectively ascertained JME patients and encountered four groups: (i) classic JME (72%), (ii) CAE (childhood absence epilepsy) evolving to JME (18%), (iii) JME with adolescent absence (7%), and (iv) JME with astatic seizures (3%). We examined clinical and EEG phenotypes of family members and assessed clinical course over a mean of 11 +/- 6 years and as long as 52 years. Forty per cent of JME families had JME as their sole clinical phenotype. Amongst relatives of classic JME families, JME was most common (40%) followed by grand mal (GM) only (35%). In contrast, 66% of families with CAE evolving to JME expressed the various phenotypes of IGE in family members. Absence seizures were more common in family members of CAE evolving to JME than in those of classic JME families (P < 0.001). Female preponderance, maternal transmission and poor response to treatment further characterized CAE evolving to JME. Only 7% of those with CAE evolving to JME were seizure-free compared with 58% of those with classic JME (P < 0.001), 56% with JME plus adolescent pyknoleptic absence and 62% with JME plus astatic seizures. Long-term follow-up (1-40 years for classic JME; 5-52 years for CAE evolving to JME, 5-26 years for JME with adolescent absence and 3-18 years for JME with astatic seizures) indicates that all subsyndromes are chronic and perhaps lifelong. Seven chromosome loci, three epilepsy-causing mutations and two genes with single nucleotide polymorphisms (SNPs) associating with JME reported in literature provide further evidence for JME as a distinct group of diseases.
引用
收藏
页码:1269 / 1280
页数:12
相关论文
共 48 条
[1]  
[Anonymous], 1981, Epilepsia, V22, P489
[2]   PROPOSAL FOR REVISED CLASSIFICATION OF EPILEPSIES AND EPILEPTIC SYNDROMES [J].
不详 .
EPILEPSIA, 1989, 30 (04) :389-399
[3]   SOME CLINICAL AND EEG ASPECTS OF BENIGN JUVENILE MYOCLONIC EPILEPSY [J].
ASCONAPE, J ;
PENRY, JK .
EPILEPSIA, 1984, 25 (01) :108-114
[4]  
Canevini M P, 1992, Seizure, V1, P291, DOI 10.1016/1059-1311(92)90039-4
[5]   Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy [J].
Cossette, P ;
Liu, LD ;
Brisebois, K ;
Dong, HH ;
Lortie, A ;
Vanasse, M ;
Saint-Hilaire, JM ;
Carmant, L ;
Verner, A ;
Lu, WY ;
Wang, YT ;
Rouleau, GA .
NATURE GENETICS, 2002, 31 (02) :184-189
[6]   PROGNOSIS OF PURE PETIT MAL - A FOLLOW-UP STUDY [J].
CURRIER, RD ;
SAIDMAN, LJ ;
KOOI, KA .
NEUROLOGY, 1963, 13 (11) :959-&
[7]   JUVENILE MYOCLONIC EPILEPSY OF JANZ [J].
DELGADOESCUETA, AV ;
ENRILEBACSAL, F .
NEUROLOGY, 1984, 34 (03) :285-294
[8]   Preponderance of female sex in the transmission of seizure liability in idiopathic generalized epilepsy [J].
Doose, H ;
Neubauer, BA .
EPILEPSY RESEARCH, 2001, 43 (02) :103-114
[9]  
DREIFUSS FE, 1985, EPILEPSIA, V26, P268
[10]   Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q [J].
Elmslie, FV ;
Rees, M ;
Williamson, MP ;
Kerr, M ;
Kjeldsen, MJ ;
Pang, KA ;
Sundqvist, A ;
Friis, ML ;
Chadwick, D ;
Richens, A ;
Covanis, A ;
Santos, M ;
Arzimanoglou, A ;
Panayiotopoulos, CP ;
Curtis, D ;
Whitehouse, WP ;
Gardiner, RM .
HUMAN MOLECULAR GENETICS, 1997, 6 (08) :1329-1334