Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder caused by a CAG nucleotide repeat expansion in atrophin 1. A previous report described cerebellar white matter lesions on magnetic resonance imaging (MRI) in elderly-onset DRPLA patients, but this finding has not been fully investigated in a total population of DRPLA patients, including juvenile or early-adult onset patients. Herein, we attempted to determine the frequency, distribution pattern, and features of the cerebellar white matter lesions in 30 consecutive DRPLA patients. We also assessed the relationships between the cerebellar white matter lesions and clinical parameters and other MRI findings. The cerebellar white matter lesions were found in 43% of the 30 DRPLA patients, and in 70% of the late adult-onset DRPLA patients. In approx. Two-thirds of the patients with cerebellar white matter lesions, the lesions were localized in the paravermal area (paravermal lesions). Multiple logistic regression analyses revealed that the Fazekas grade of 'cerebral' white matter lesions was independently associated with 'cerebellar' white matter lesions. In conclusion, cerebellar white matter lesions are one of the distinctive MRI features in DRPLA patients, especially in patients with older age at onset. Cerebellar white matter lesions, as well as cerebral white matter lesions, might originate from the disease process of DRPLA itself, and they often have a characteristic distribution of paravermal lesions.

中文翻译：

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齿红-苍白球萎缩中的小脑白质病变

Dentatorubral-pallidoluysian atrophy (DRPLA) 是一种常染色体显性神经退行性疾病，由 atrophin 1 中的 CAG 核苷酸重复扩增引起。之前的一份报告描述了老年发病的 DRPLA 患者的磁共振成像 (MRI) 小脑白质病变，但这一发现已经尚未在 DRPLA 患者的总人群中进行充分研究，包括青少年或早发患者。在此，我们试图确定 30 名连续 DRPLA 患者的小脑白质病变的频率、分布模式和特征。我们还评估了小脑白质病变与临床参数和其他 MRI 结果之间的关系。30 名 DRPLA 患者中有 43% 发现了小脑白质病变，而在成人晚期发病的 DRPLA 患者中，有 70% 发现了小脑白质病变。在大约 三分之二的患者有小脑白质病变，病变局限在虫体旁区（paravermal damage）。多元逻辑回归分析显示，“大脑”白质病变的 Fazekas 分级与“小脑”白质病变独立相关。总之，小脑白质病变是 DRPLA 患者的独特 MRI 特征之一，尤其是在发病年龄较大的患者中。小脑白质病变，以及脑白质病变，可能起源于DRPLA本身的疾病过程，通常具有寄生虫病变的特征性分布。多元逻辑回归分析显示，“大脑”白质病变的 Fazekas 分级与“小脑”白质病变独立相关。总之，小脑白质病变是 DRPLA 患者的独特 MRI 特征之一，尤其是在发病年龄较大的患者中。小脑白质病变，以及脑白质病变，可能起源于DRPLA本身的疾病过程，且常具有寄生虫病变的特征性分布。多元逻辑回归分析显示，“大脑”白质病变的 Fazekas 分级与“小脑”白质病变独立相关。总之，小脑白质病变是 DRPLA 患者的独特 MRI 特征之一，尤其是在发病年龄较大的患者中。小脑白质病变，以及脑白质病变，可能起源于DRPLA本身的疾病过程，且常具有寄生虫病变的特征性分布。