Paracuellos-Ayala Irene, Caruana Giovanni, Reyes Ortega Macarena Maria, Hagerman Randi J, Wang Jun Yi, Rodriguez-Revenga Laia, Elias-Mas Andrea
Radiology Department, Hospital Universitari Mútua Terrassa (HUMT), Terrassa 08221, Spain.
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA 95817, USA.
Int J Mol Sci. 2025 May 6;26(9):4402. doi: 10.3390/ijms26094402.
The cerebellar peduncles (CPs) contain essential pathways connecting the cerebellum and other regions of the central nervous system, yet their role is often overlooked in daily medical practice. Individuals with the premutation are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder. The major clinical and radiological signs of FXTAS are cerebellar gait ataxia, intention tremor, and T2-weighted MRI hyperintensity of the middle cerebellar peduncle (MCP sign). Over the years, metabolic and structural abnormalities have also been described in the CPs of premutation carriers, with some being associated with CGG repeat length and mRNA levels. Evidence seems to associate the clinical disfunction observed in FXTAS with MCP abnormalities. However, other tracts within the different CPs may also contribute to the symptoms observed in FXTAS. By integrating imaging and pathological data, this review looks to enhance the understanding of the functional anatomy of the CPs and their involvement in different pathological entities, with special interest in premutation carriers and FXTAS. This review, therefore, aims to provide accessible knowledge on the subject of the CPs and their functional anatomy through detailed diagrams, offering a clearer understanding of their role in premutation.
小脑脚（CPs）包含连接小脑与中枢神经系统其他区域的重要通路，但在日常医疗实践中其作用常常被忽视。具有前突变的个体有患脆性X相关震颤/共济失调综合征（FXTAS）的风险，这是一种迟发性神经退行性疾病。FXTAS的主要临床和影像学表现为小脑性步态共济失调、意向性震颤以及小脑中间脚的T2加权磁共振成像高信号（MCP征）。多年来，也有关于前突变携带者小脑脚代谢和结构异常的描述，其中一些与CGG重复长度和mRNA水平有关。证据似乎将FXTAS中观察到的临床功能障碍与MCP异常联系起来。然而，不同小脑脚内的其他神经束也可能导致FXTAS中观察到的症状。通过整合影像学和病理学数据，本综述旨在增进对小脑脚功能解剖及其在不同病理实体中所起作用的理解，特别关注前突变携带者和FXTAS。因此，本综述旨在通过详细的图表提供关于小脑脚及其功能解剖的易懂知识，以便更清楚地了解它们在前突变中的作用。
