Department of Neurology, INM, INSERM, University of Montpellier, Montpellier University Hospital, Montpellier, France.
Department of Neurology, Montpellier University Hospital, Montpellier, France.
Eur J Neurol. 2022 Jan;29(1):329-334. doi: 10.1111/ene.15115. Epub 2021 Sep 28.
Diagnostic criteria for adult onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) due to colony-stimulating factor 1 receptor (CSF1R) mutation have recently been proposed. Our objective was to assess their accuracy in an independent multicenter cohort.
We evaluated the sensitivity and specificity of the diagnostic criteria for ALSP (including the "probable" and "possible" definitions) in a national cohort of 22 patients with CSF1R mutation, and 59 patients with an alternative diagnosis of adult onset inherited leukoencephalopathy.
Overall, the sensitivity of the diagnostic criteria for ALSP was 82%, including nine of 22 patients diagnosed as probable and nine of 22 diagnosed as possible. Twenty of the 59 CSF1R mutation-negative leukoencephalopathies fulfilled the diagnostic criteria, leading to a specificity of 66%.
Diagnostic criteria for ALSP have an overall limited sensitivity along with a modest specificity. We suggest that in patients suspected of genetic leukoencephalopathy, a comprehensive magnetic resonance imaging pattern-based approach is warranted, together with white matter gene panel or whole exome sequencing.
最近提出了一种用于诊断因集落刺激因子 1 受体（CSF1R）突变引起的成人发病脑白质病伴轴索性球体和色素性神经胶质（ALSP）的诊断标准。我们的目的是在一个独立的多中心队列中评估其准确性。
我们评估了 CSF1R 突变的 22 例患者和 59 例具有成人发病遗传性脑白质病替代诊断的国家队列中 ALSP 诊断标准（包括“可能”和“可能”定义）的敏感性和特异性。
总体而言，ALSP 诊断标准的敏感性为 82%，包括 22 例可能诊断的 9 例和 22 例可能诊断的 9 例。59 例 CSF1R 突变阴性脑白质病中有 20 例符合诊断标准，特异性为 66%。
ALSP 的诊断标准总体敏感性有限，特异性适中。我们建议在疑似遗传性脑白质病的患者中，应进行全面的磁共振成像基于模式的方法，同时进行白质基因谱或全外显子组测序。
