TY - JOUR
T1 - Familial adult myoclonus epilepsy
T2 - Neuroimaging and neuropathological findings
AU - van Rootselaar, Anne-Fleur
AU - Cocozza, Sirio
AU - Aronica, Eleonora
AU - Striano, Pasquale
N1 - Funding Information: P.S. acknowledges the European Reference Network EpiCARE with which IRCCS Istituto Giannina Gaslini is affiliated. This communication was part of the International Workshop on Familial Adult Myoclonic Epilepsy, held in Naples (Italy) on May 27–28, 2022. This networking event has received funding from the European Union's Horizon 2020 research and innovation program under EJP RD COFUND‐EJP No. 825575. Publisher Copyright: © 2023 The Authors. Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.
PY - 2023/6
Y1 - 2023/6
N2 - 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.
AB - 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.
KW - Purkinje cell
KW - cerebellum
KW - cortical myoclonus
KW - hereditary
KW - pentanucleotide repeat
KW - tremor
UR - http://www.scopus.com/inward/record.url?scp=85158152863&partnerID=8YFLogxK
U2 - https://doi.org/10.1111/epi.17628
DO - https://doi.org/10.1111/epi.17628
M3 - Article
C2 - 37096373
SN - 0013-9580
VL - 64
SP - S47-S51
JO - Epilepsia
JF - Epilepsia
IS - S1
ER -