How late does Lafora body disease present?

Late-onset Lafora disease with prominent parkinsonism due to a rare mutation in EPM2A

Lynch DS, Wood NW, Houlden H.

Neurol Genet 2016; 2:e101.

Abstract

Lafora disease (LD) is an autosomal recessive form of progressive myoclonic epilepsy that is caused by mutations in EPM2A, encoding laforin, and NHLRC1 (EPM2B), encoding malin.(1) LD is classically described with onset in early teenage years. Patients develop myoclonus, epilepsy, visual hallucinations, and psychosis.

Dementia is a prominent feature and often occurs in the late teenage years. LD typically progresses quickly, and patients become bedridden and dependent within 10 years of symptom onset, with life expectancy in the early 20s.(2,3) Only a small number of late-onset cases of LD have been described. Even then, these so-called late-onset cases have typically presented in the 20s, with dementia occurring in the early 30s.

We describe a patient with extremely late onset and extended survival with prominent parkinsonism due to a novel EPM2A variant.

This reference is now included in the neurochecklist:

Lafora Body disease

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Abstract link

By Unknown - Stephen Ashwal. The Founders of Child Neurology. Norman Publishing 1990 ISBN 0930405269, Public Domain, Link
Gonzalo Rodriguez Lafora. By Unknown – Stephen Ashwal. The Founders of Child Neurology. Norman Publishing 1990 ISBN 0930405269, Public Domain, Link
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