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<p>Parkinson’s disease (PD) and Essential Tremor (ET) are heterogeneous, yet distinct disorders. At the same time, PD and ET show overlapping features such as tremor-predominant phenotypes. These heterogeneities and overlaps pose challenges for clinical management and research and may indicate shared, transdiagnostic mechanisms of tremor. We hypothesized that MRI-derived volumetric differences relate to tremor phenotypes rather than diagnostic labels. We compared regional brain volumes among three patient groups with overlapping phenotypes but distinct diagnoses: ET, PD with tremor-dominant phenotype (PD-T), and PD with non-tremor-dominant phenotype (PD-nT). We studied 164 patients (18 ET, 38 PD-T, 108 PD-nT) who underwent structural MRI and standardized assessment of motor symptoms as candidates for deep brain stimulation. We compared regional brain volumes between groups. Volumes of the thalamus, pallidum, and pre-cerebellar and upper brainstem (midbrain, pons, superior cerebellar peduncle) differed across groups, being smallest in ET, intermediate in PD-T, and largest in PD-nT. Differences reached significance when comparing ET or PD-T with PD-nT but not ET with PD-T. Thalamic and brainstem volumes correlated with more severe and less levodopa-responsive tremor in PD. In contrast to the subcortical findings, cortical thickness was thinner in fronto-parietal regions in PD-nT compared to PD-T patients, with no difference relative to ET. We identified tremor-related volume loss in cerebellothalamic and interconnected regions (pallidum) in PD and ET. These findings, though preliminary, provide novel structural MRI evidence supporting shared mechanisms of tremor and point towards a transdiagnostic structural brain signature of tremor across PD and ET.</p>

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A transdiagnostic structural brain signature of Parkinsonian and Essential Tremor

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月21日

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  • Christian Ineichen,
  • Fraser Callaghan,
  • Heide Baumann-Vogel,
  • Fabian Büchele,
  • Ruth O’Gorman Tuura,
  • Christian R. Baumann,
  • Simon J. Schreiner

摘要

Parkinson’s disease (PD) and Essential Tremor (ET) are heterogeneous, yet distinct disorders. At the same time, PD and ET show overlapping features such as tremor-predominant phenotypes. These heterogeneities and overlaps pose challenges for clinical management and research and may indicate shared, transdiagnostic mechanisms of tremor. We hypothesized that MRI-derived volumetric differences relate to tremor phenotypes rather than diagnostic labels. We compared regional brain volumes among three patient groups with overlapping phenotypes but distinct diagnoses: ET, PD with tremor-dominant phenotype (PD-T), and PD with non-tremor-dominant phenotype (PD-nT). We studied 164 patients (18 ET, 38 PD-T, 108 PD-nT) who underwent structural MRI and standardized assessment of motor symptoms as candidates for deep brain stimulation. We compared regional brain volumes between groups. Volumes of the thalamus, pallidum, and pre-cerebellar and upper brainstem (midbrain, pons, superior cerebellar peduncle) differed across groups, being smallest in ET, intermediate in PD-T, and largest in PD-nT. Differences reached significance when comparing ET or PD-T with PD-nT but not ET with PD-T. Thalamic and brainstem volumes correlated with more severe and less levodopa-responsive tremor in PD. In contrast to the subcortical findings, cortical thickness was thinner in fronto-parietal regions in PD-nT compared to PD-T patients, with no difference relative to ET. We identified tremor-related volume loss in cerebellothalamic and interconnected regions (pallidum) in PD and ET. These findings, though preliminary, provide novel structural MRI evidence supporting shared mechanisms of tremor and point towards a transdiagnostic structural brain signature of tremor across PD and ET.