Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations

被引:44
作者
Magnusson, A
Stordal, E
Brodtkorb, E
Steinlein, O
机构
[1] Univ Hosp, Inst Human Genet, Bonn, Germany
[2] Univ Trondheim Hosp, Dept Neurol, Trondheim, Norway
[3] Namdal Hosp, Dept Psychiat, Namsos, Norway
[4] Ulleval Hosp, Dept Psychiat, N-0407 Oslo, Norway
关键词
schizophrenia; schizophrenia-like psychosis of epilepsy; epilepsy; ADNFLE; psychiatric genetics; nicotinic acetylcholine receptor; CHRNA4;
D O I
10.1097/01.ypg.0000056173.32550.b0
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Objectives Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is characterized by a strong family history of epileptic seizures, which predominantly occur during sleep. ADNFLE has been associated with mutations in two genes coding for the nicotinic acetylcholine receptor (CHRNA4 and CHRNB2). Thus far, three different mutations have been detected in the CHRNA4 gene, and two in the CHRNB2 gene. The aim of this study was to compare the frequency of psychiatric disorders in two ADNFLE families with different CHRNA4 mutations (776ins3 and Ser248Phe). Methods Information was gathered from hospital charts and therapists, and the family members were assessed by clinical interviews and structured clinical interviews. Results Of the 10 individuals diagnosed with epilepsy in the CHRNA4-776ins3 family, at least four had been in contact with psychiatric services. One individual had schizophrenia, while another family member had experienced at least two severe psychotic episodes, and had been taking antipsychotic medications for years. The third family member had been hospitalized at least three times for psychiatric problems. The fourth family member needs help with activities of daily living due to incapacitating apathy, although she does not have a psychiatric diagnosis. Such accumulation of psychiatric problems was not seen in the family with the Ser248Phe mutation. Conclusion These findings suggest that there may be an association between the 776ins3 mutation and the psychiatric symptoms, a hypothesis that needs further testing. (C) 2003 Lippincott Williams Wilkins.
引用
收藏
页码:91 / 95
页数:5
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