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Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis)

Roussel, BD; Lomas, DA; Crowther, DC; (2016) Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis). Epileptic Disorders , 18 (S2) pp. 103-110. 10.1684/epd.2016.0847. Green open access

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Abstract

Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a conformational proteinopathy characterised by neuronal inclusion bodies composed of the serine protease inhibitor (SERPIN), neuroserpin. Presenting clinically as a familial dementia-epilepsy syndrome, the molecular mechanism of the pathogenic abnormalities in neuroserpin has been characterised at atomic resolution. There is a remarkable genotype-phenotype correlation between the degree of molecular destabilisation of the several variants of the neuroserpin protein, their propensity to self-associate and the age of onset of the dementia-epilepsy complex. As with other serpinopathies there appears to be a mix of cell-autonomous toxicity, due to neuronal accumulation of neuroserpin, and non-cell autonomous toxicity, caused by loss of protease inhibition, in this case the dysregulated protease is likely to be tissue plasminogen activator (tPA). FENIB should be considered in cases of progressive myoclonic epilepsy and dementia particularly where there is family history of neuropsychiatric disease.

Type: Article
Title: Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis)
Location: France
Open access status: An open access version is available from UCL Discovery
DOI: 10.1684/epd.2016.0847
Publisher version: http://dx.doi.org/10.1684/epd.2016.0847
Language: English
Additional information: Copyright © 2017 John Libbey Eurotext.
Keywords: FENIB, conformational disease, dementia, familial progressive myoclonic epilepsy, neuroserpin, progressive myoclonus epilepsies, protease inhibitor, serpinopathy, serpins
UCL classification: UCL
UCL > Provost and Vice Provost Offices > VP: Health
URI: https://discovery.ucl.ac.uk/id/eprint/1530177
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