Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) with Aphasic Seizures and Linkage to Chromosome 10q22-q24.
Abstract number :
1.054
Submission category :
Year :
2001
Submission ID :
290
Source :
www.aesnet.org
Presentation date :
12/1/2001 12:00:00 AM
Published date :
Dec 1, 2001, 06:00 AM
Authors :
E. Brodtkorb, MD, PhD, Department of Neurology, University Hospital, Trondheim, Norway; W. Gu, MS, Institute of Human Genetics, Friedrichs-Wilhelms-University, Bonn, Germany; K.O. Nakken, MD, PhD, The National Center for Epilepsy, Sandvika, Norway; C. Fis
RATIONALE: To describe the phenotypic expression of a new family with ADLTE characterized by aphasic as well as auditive ictal symptoms, and to discuss their symptoms with respect to previously published families with ADLTE.
METHODS: A pedigree was constructed. Twelve living affected members underwent a personal interview and a clinical neurological examination. Results from interictal EEGs and neuroimaging methods were obtained. Linkage analyses were performed.
RESULTS: The transmission pattern was consistent with an autosomal dominant inheritance with incomplete penetrance. Mean age at seizure onset was 18 years (range 4-42). The cardinal ictal symptom was a shortlasting sensory aphasia in eight of the patients. In four, this was accompanied by auditory symptoms, usually in the form of monotonous, unformed sounds. Simple partial seizures with psychic or somatosensory symptoms were also present in the family. Visual ictal symptoms and complex partial seizures were absent. All patients had generalized tonic clonic seizures. Seven patients reported that aphasic seizures sometimes could be precipitated by the activation of speech (initiation or perception). Improvement with age seemed to occur in many patients. EEG demonstrated rare and mild, focal abnormalities, predominantly confined to the left lateral aspect of the brain. Brain MRI or CT did not reveal morphological correlates. Linkage analysis showed significant results with polymorphic markers from chromosome 10q22-q24.
CONCLUSIONS: The epilepsy of this family appears to represent a variety of ADLTE. Aphasic seizures and a peculiar seizure precipitating effect of the activation of speech are striking features, which has not been reported in previous ADLTE families with linkage to chromosome 10q22-q24.
Support: Deutsche Forschungsgemeinschaft