Pasquini Jacopo, Trogu Francesca, Morelli Claudia, Poletti Barbara, Girotti Floriano, Peverelli Silvia, Brusati Alberto, Ratti Antonia, Ciammola Andrea, Silani Vincenzo, Ticozzi Nicola
Department of Neurology and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, Milan, Italy.
Neurology Residency Program, Università Degli Studi di Milano, Milan, Italy.
Front Aging Neurosci. 2022 Jun 27;14:917706. doi: 10.3389/fnagi.2022.917706. eCollection 2022.
Parkinsonian syndromes may rarely occur in motor neuron disease (MND). However, previous studies are heterogeneous and mostly case reports or small case series. Therefore, we aimed to identify and characterize patients with concurrent parkinsonian syndromes extracted from a cohort of 1,042 consecutive cases diagnosed with MND at a tertiary Italian Center.
Diagnosis of Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) was made according to current criteria. Clinical characterization included: upper and lower motor neuron disease features, typical and atypical parkinsonian features, oculomotor disorders, cognitive testing, MRI features, and, when available molecular neuroimaging. Genetic testing was carried out for major MND and PD-associated genes.
Parkinsonian syndromes were diagnosed in 18/1042 (1.7%) of MND patients (7 PD, 6 PSP, 3 CBS, 2 other parkinsonisms). Based on phenotype, patients could be categorized into amyotrophic lateral sclerosis (ALS)-parkinsonism and primary lateral sclerosis (PLS)-parkinsonism clusters. Across the whole database, parkinsonism was significantly more common in PLS than in other MND phenotypes (12.1 vs. 1.1%, = 5.0 × 10). MND patients with parkinsonian features had older age of onset, higher frequency of oculomotor disorders, cognitive impairment, and family history of parkinsonism or dementia. Two patients showed pathogenic mutations in and genes.
Specific patterns in MND-parkinsonism were observed, with PLS patients often showing atypical parkinsonian syndromes and ALS patients more frequently showing typical PD. Systematic clinical, genetic, and neuropathologic characterization may provide a better understanding of these phenotypes.
帕金森综合征在运动神经元病（MND）中可能很少见。然而，以往的研究存在异质性，大多是病例报告或小病例系列。因此，我们旨在从意大利一家三级中心连续诊断的1042例MND患者队列中识别并描述并发帕金森综合征的患者。
根据现行标准诊断帕金森病（PD）、进行性核上性麻痹（PSP）和皮质基底节综合征（CBS）。临床特征包括：上下运动神经元病特征、典型和非典型帕金森特征、动眼神经障碍、认知测试、MRI特征，以及可用时的分子神经影像学。对主要的MND和PD相关基因进行基因检测。
1042例MND患者中有18例（1.7%）被诊断为帕金森综合征（7例PD、6例PSP、3例CBS、2例其他帕金森症）。根据表型，患者可分为肌萎缩侧索硬化（ALS）-帕金森综合征和原发性侧索硬化（PLS）-帕金森综合征组。在整个数据库中，帕金森综合征在PLS中比在其他MND表型中更常见（12.1%对1.1%，P = 5.0×10）。具有帕金森特征的MND患者发病年龄较大，动眼神经障碍、认知障碍以及帕金森症或痴呆家族史的发生率较高。两名患者在基因和基因中显示出致病突变。
观察到MND-帕金森综合征的特定模式，PLS患者常表现为非典型帕金森综合征，而ALS患者更常表现为典型PD。系统的临床、基因和神经病理学特征描述可能有助于更好地理解这些表型。
