Abstract:
PURPOSE:Univerricht-Lundborg disease (ULD), with its major symptom of action myoclonus, is supposed to be very rare in the Netherlands and western Europe. We hypothesized that the syndrome may be underdiagnosed in patients with myoclonus epilepsy. METHODS:Mutation analysis of the cystatin B gene was performed in 21 cases with uncontrolled myoclonus. RESULTS:Seven of the 21 evaluated cases carried mutations in the cystatin B gene. Diagnosis of ULD was made with a mean delay of 20 years from symptom onset. CONCLUSIONS:This study from a country without previous reports of ULD suggests that underdiagnosis of the syndrome is likely. These findings also indicate that persons with juvenile-onset myoclonus epilepsy with action myoclonus should be analyzed for ULD.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
de Haan GJ,Halley DJ,Doelman JC,Geesink HH,Augustijn PB,Jager-Jongkind AD,Majoie M,Bader AJ,Leliefeld-Ten Doeschate LA,Deelen WH,Bertram E,Lehesjoki AE,Lindhout Ddoi
10.1111/j.0013-9580.2004.43703.xsubject
Has Abstractpub_date
2004-09-01 00:00:00pages
1061-3issue
9eissn
0013-9580issn
1528-1167pii
EPI43703journal_volume
45pub_type
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