NO EVIDENCE FOR AN INCREASED MALIGNANCY RISK IN EPILEPSY CAUSED BY LGI1 MUTATION
Abstract number :
1.187
Submission category :
Year :
2003
Submission ID :
3947
Source :
www.aesnet.org
Presentation date :
12/6/2003 12:00:00 AM
Published date :
Dec 1, 2003, 06:00 AM
Authors :
Eylert Brodtkorb, Karl O. Nakken, Steinlein K. Ortrud Department of Neurology, Trondheim University Hospital, Trondheim, Norway; The National Centre for Epilepsy, Sandvika, Norway; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany
The LGI1 gene (Leucine-rich Glioma-inactivated- 1) is supposed to be a tumor suppression gene involved in the formation and progression of glial tumors. It has recently been shown that LGI1 is mutated in families with autosomal dominant temporal lobe epilepsy (ADLTE). An urgent question emerged: are LGI1 mutation carriers at a higher risk for brain tumors and other malignancies?
We have studied the comorbidity in a large, 5-generation Norwegian family with ADLTE caused by the heterozygous LGI1 mutation C46R.
In only one patient a malignancy had been diagnosed. This patient was treated with surgery 18 years ago and is now in good health. The obligate carriers in generation II and the likely carrier in generation I all reached above average age (90-95 years). Neuroimaging in 11 of the subjects with clinical ADLTE revealed no signs of intracranial neoplams. Sudden death had occurred in two individuals with epilepsy, in one young man at age 27, and in a 64 year old woman who suffered from multiple chronic disorsers.
Our clinical findings do not support the hypothesis that the present mutation increases the number of malignancies or lower their age of onset.