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 Printable version |
Progressive myoclonus epilepsy of Unverricht-Lundborg type in la Réunion island |
Epilepsies. Volume 14, Number 2, 99-106, Juin 2002, Articles originaux
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 Résumé
Article gratuit
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Author(s) : Bruno Moulard, Françoise Darcel, Didier Mignard, Marc Jeanpierre, Pierre Genton, François Cartault, Jacqueline Yaouanq, Agathe Roubertie, Arnaud Biraben, Catherine Buresi, Alain Malafosse |
Summary : We present the clinical and molecular study of 18 patients with either Unverricht-Lundborg disease (ULD), or isolated seizures, all belonging to 12 families originating from la Reunion, a French island in the Indian Ocean. Fourteen subjects harboured the typical ULD mutation, a homozygous expansion of a dodecamer repeat in the cystatin B (CSTB) gene promoter beyond 40 repeats. Clinically, those cases were very similar to the typical myoclonus syndrome, associated with generalised tonic-clonic seizures (GTCS), cerebellar involvement and sometimes mild mental deterioration. The mean age at onset was 9.6 years (range 5 to 14), with a mean disease duration of 27 years (range 5 to 47). We observed a founder effect, as all but one la Reunion ULD chromosomes with the expansion displayed the same haplotype 1-1-1-2-6-4-3 with seven markers of genomic DNA (D21S1890-D21S1885-D21S2040-CSTB-D21S1259-D21S1912-PFKL-D21S171). We estimated the arrival in la Reunion of the most recent common ancestor at about 250 years ago, in the middle of the 18th Century, 12 generations earlier. We also confirmed the genetic instability of the ULD mutation, since the expansion size was quite variable (mean 56.3 repeats, range 49 to 63). |
Keywords : Unverricht-Lundborg disease, la Reunion island, founder effect. |
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