Univerricht-Lundborg disease: underdiagnosed in the Netherlands.

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

Epilepsia

journal_title

Epilepsia

authors

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 D

doi

10.1111/j.0013-9580.2004.43703.x

subject

Has Abstract

pub_date

2004-09-01 00:00:00

pages

1061-3

issue

9

eissn

0013-9580

issn

1528-1167

pii

EPI43703

journal_volume

45

pub_type

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