Rasmussen Syndrome and Other Inflammatory Epilepsies

Sophia Varadkar; J. Helen Cross

doi:10.1055/s-0035-1552921

Seminars in Neurology, Table of Contents

Semin Neurol 2015; 35(03): 259-268
DOI: 10.1055/s-0035-1552921

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Rasmussen Syndrome and Other Inflammatory Epilepsies

Sophia Varadkar

¹Epilepsy Unit, Great Ormond Street Hospital for Children NHS Foundation Trust and UCL Institute of Child Health, London, United Kingdom

,

J. Helen Cross

²Department of Clinical Neurosciences, UCL-Institute of Child Health, Great Ormond Street for Children NHS Foundation Trust, London and Young Epilepsy, Lingfield, United Kingdom

› Author Affiliations

Abstract

An underlying immune basis is emerging in an increasing number of epileptic and encephalopathic syndromes. The immunopathological mechanisms may be categorized into antibody-mediated, T-cell cytotoxicity, and microglia-induced degeneration. The immune basis in Rasmussen syndrome is thought to be T-cell mediated. Antibodies to extracellular and intracellular epitopes are implicated in limbic and other encephalitides, characterized by seizures, movement disorder, sleep disorder, obtundation, psychosis, mutism, and other psychiatric symptoms. Extracellular antibodies are directed at cell-surface-expressed neuronal or glial proteins: glutamate receptors (N-methyl-D-aspartate and α-amino-3-hydroxy-5-methyl-4-isoxazol-propionic acid), voltage-gated potassium channel complex (contactin-associated-protein 2 [CASPR2], contactin-2 and leucin-rich, glioma-inactivated 1 [LGI1]), and γ-aminobutyric acid (GABA) receptors (GABA_BR and GABA_AR). Antibodies to intracellular antigens are less commonly seen (for example, glutamic acid decarboxylase). Diseases caused by antibodies to cell-surface-expressed antigens are better expected to respond to immune treatments than to those where the presumed mechanism is T-cell driven. Antibodies to the folate receptor FR1 are a cause of primary cerebral folate deficiency. Febrile infection-related epilepsy syndrome (FIRES) may also have an immune basis, although this is yet to be proven. For all these epilepsies, the best treatment and the long-term outcomes are not yet clear.

Keywords

Rasmussen syndrome - Rasmussen encephalitis - epilepsy - immune - antibody - encephalitis - N-methyl-D-aspartate receptor - voltage-gated potassium channel - febrile infection-related epilepsy syndrome

Full Text

References

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