Chapter

Progressive Myoclonus Epilepsy

Anna-Elina Lehesjoki and Mark Gardiner

in Jasper's Basic Mechanisms of the Epilepsies

Fourth edition

Published on behalf of ©Jeffrey L. Noebels, Massimo Avoli, Michael A. Rogawski, Richard W. Olsen, and Antonio V. Delgado-Escueta

Published in print July 2012 | ISBN: 9780199746545
Published online April 2013 | e-ISBN: 9780199322817 | DOI: http://dx.doi.org/10.1093/med/9780199746545.003.0069

Series: Contemporary Neurology Series

Progressive Myoclonus Epilepsy

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Loss-of-function mutations in CSTB are the primary defect in EPM1. In CSTB mutation-negative patients, PRICKLE1 and SCARB2 should be considered for testing. Lost lysosomal association of CSTB is an important contributing factor to EPM1. CSTB has an endogenous neuroprotective role, with different neuronal populations having different sensitivity to CSTB deficiency. The function of CSTB and the molecular mechanisms of EPM1 remain to be elucidated. Eight genes underlying human NCLs have now been identified: PPT1, TPP1, CLN3, CLN5, CLN6, MFSD8, CLN8, and CSTD. However, the biological function of the proteins encoded by NCL genes remains elusive, and it is still uncertain whether a common pathway at the molecular level underlies the accumulation of ceroid-lipofuscin. Diagnosis by enzymatic testing or DNA analysis is now available for several subtypes, and new treatment approaches are being developed.

Chapter.  5272 words. 

Subjects: Neurology

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