MRI Abnormalities in Familial Temporal Lobe Epilepsy with Auditory Auras.
Abstract number :
1.198
Submission category :
Year :
2001
Submission ID :
1683
Source :
www.aesnet.org
Presentation date :
12/1/2001 12:00:00 AM
Published date :
Dec 1, 2001, 06:00 AM
Authors :
E. Kobayashi, MD, Neurology, UNICAMP, Campinas, SP, Brazil; N.F. Santos, PhD, Medical Genetics, UNICAMP, Campinas, SP, Brazil; F.R. Torres, BSc, Medical Genetics, UNICAMP, Campinas, SP, Brazil; R. Secolin, BSc, Medical Genetics, UNICAMP, Campinas, SP, Bra
RATIONALE: To describe clinical, linkage and MRI findings in patients with familial temporal lobe epilepsy with auditory auras .
Background: At least two different forms of familial temporal lobe epilepsy (TLE) have been described: familial mesial TLE with hipocampal sclerosis and familial TLE with auditory auras or familial lateral TLE (FLTLE). A locus on ch 10q has been identified in two families with FLTLE. Clinical evaluation of these two families shows that most patients have a benign epilepsy syndrome with seizure onset in the lateral temporal regions. Furthermore, patients describe a characteristic aura with auditory symptoms and no MRI abnormalities have been reported.
METHODS: We studied one large family segregating LTLE and performed detailed clinical, EEG and MRI evaluation in all individuals available. In addition, family members were genotyped for four polymorphic dinucleotide repeat markers: D10S185,D10S574,D10S577and D10S192, which flank the 15 cM candidate interval on ch 10q. We assumed an autosomal dominant mode of inheritance.
RESULTS: : We identified 25 possibly affected individuals, 19 of whom have been evaluated: 12 men and 7 women, mean age at seizure onset was 19. Eleven patients reported auras with auditory symptoms alone; in two patients auditory phenomena was associated with deja-v[uacute]; and in two additional patients there were also episodes of visual misperception. Isolated deja-v[uacute] was present in only one patient. All patients report good seizure control on medication and six of them are seizure-free for at least two years. MRI was performed in 10 patients and visual analysis showed lateral temporal lobe malformations in three of them. Two-point lod scores were positive for all four markers genotyped and a Zmax = 1.99 was achieved with marker D10S185 at recombination fraction = 0.0.
CONCLUSIONS: We describe an additional kindred with FLTLE which shows evidence for linkage to ch 10q. Unlike the other two families reported previously, we found MRI abnormalities in the cortical regions of the temporal lobes.
Support: FAPESP