Single-cell expression QTL analyses of the human cerebellum reveal vulnerability of oligodendrocytes in essential tremor - PubMed

6 hours ago

Essential tremor is a common movement disorder affecting 1% of the global population.
Genetic factors play a significant role in essential tremor, but the underlying mechanisms are not well understood.
A single-cell atlas of the human cerebellar cortex was created from over 1 million cells from 109 individuals.
Essential-tremor-associated variants in the BACE2 locus are causally linked to its downregulation in cerebellar oligodendrocytes.
The study identifies a vulnerable population of BACE2-expressing immature oligodendrocytes, suggesting demyelination may be involved.
Dysfunctional processes between neuronal populations and oligodendrocytes were identified in essential tremor.
The findings highlight the crucial role of cerebellar oligodendrocytes in the pathogenesis of essential tremor.

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