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Unverricht-Lundborg disease with cystatin B gene abnormalities

2002; Elsevier BV; Volume: 26; Issue: 1 Linguagem: Inglês

10.1016/s0887-8994(01)00336-8

1873-5150

Kuriko Kagitani‐Shimono, Katsumi Imai, Nobuhiko Okamoto, Jiro Ono, Shintaro Okada,

Autoimmune Neurological Disorders and Treatments

The clinical, neurophysiologic, and genetic findings in two Japanese patients with the Unverricht-Lundborg type of progressive myoclonus epilepsy are described. The cystatin B gene of Patient 1 exhibited expansion of the dodecamer (12-mer) repeat located in the 5' region and a point mutation (G-->A mutation) in exon 2. The cystatin B gene of Patient 2 exhibited homozygous expansion of the dodecamer repeat. Both parents of Patient 2 were heterozygous carriers. The two patients had a similar clinical course, and their symptoms were similar to those of previously reported patients in Finland. They both had a good response to zonisamide and low-dose primidone. We recommend that zonisamide and low-dose primidone should be introduced as the first drugs of choice for the treatment of patients with the Unverricht-Lundborg type of progressive myoclonus epilepsy.