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Review
. 2023 Jun:64 Suppl 1:S47-S51.
doi: 10.1111/epi.17628. Epub 2023 May 6.

Familial adult myoclonus epilepsy: Neuroimaging and neuropathological findings

Anne-Fleur van Rootselaar  1 , Sirio Cocozza  2 , Eleonora Aronica  3   4 , Pasquale Striano  5   6
Affiliations
Review

Familial adult myoclonus epilepsy: Neuroimaging and neuropathological findings

Anne-Fleur van Rootselaar et al. Epilepsia. 2023 Jun.

Abstract

Familial adult myoclonus epilepsy (FAME) is characterized by cortical myoclonus and often epileptic seizures, but the pathophysiology of this condition remains uncertain. Here, we review the neuroimaging and neuropathological findings in FAME. Imaging findings, including functional magnetic resonance imaging, are in line with a cortical origin of involuntary tremulous movements (cortical myoclonic tremor) and indicate a complex pattern of cerebellar functional connectivity. Scarce neuropathological reports, mainly from a single family, provide evidence of morphological changes in the Purkinje cells. Cerebellar changes seem to be part of the syndrome, in at least some FAME pedigrees. Cortical hyperexcitability in FAME, resulting in the cardinal clinical symptoms, might be the result of decreased cortical inhibition via the cerebellothalamocortical loop. The pathological findings might share some similarities with other pentanucleotide repeat disorders. The relation with genetic findings in FAME needs to be elucidated.

Keywords: Purkinje cell; cerebellum; cortical myoclonus; hereditary; pentanucleotide repeat; tremor.

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Conflict of interest statement

None of the authors has any conflict of interest to disclose. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.

References

REFERENCES

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