ArticleAnnals of clinical and translational neurology2025
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks.
Article in Annals of clinical and translational neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
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4 authors.
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Abstract
objectiveProgressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well-characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood.
methodsEleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied. MRI included diffusion acquisition using 64 directions, b = 3000 s/mm
resultsAnalysis of structural connectivity revealed significantly reduced fiber density and fiber bundle cross-section in white matter tracts in individuals with PME, with the most severe involvement of tracts within the cerebello-thalamo-cortical network, particularly the cerebello-thalamic, thalamo-cortical, cortico-thalamic, and corticospinal tracts, as well as the splenium of the corpus callosum. By comparison with these abnormalities, cortico-cortical association pathways were relatively preserved. There was reduced volume in the cerebellum, thalamus, brainstem, and mid-anterior corpus callosum.
interpretationIndividuals with PME have atrophy and changes in fiber tracts that predominantly affect the cerebello-thalamic and motor systems, likely reflecting neuronal and axonal loss as part of a degenerative process. This imaging pattern is distinctive and accords well with the characteristic clinical, neuropathological, and neurophysiological features of the PMEs. The mechanism by which the PME genes affect these tracts is not yet known.
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