Clinical Neurology Unit, "Azienda Socio-Sanitaria Territoriale Santi Paolo E Carlo" and Department of Health Sciences, University of Milan, Via Antonio di Rudinì 8, 20142, Milan, Italy.
"Aldo Ravelli" Center for Neurotechnology and Experimental Brain Therapeutics, Department of Health Sciences, University of Milan, Via Antonio di Rudinì 8, 20142, Milan, Italy.
J Neurol. 2022 Sep;269(9):4646-4662. doi: 10.1007/s00415-022-11200-0. Epub 2022 Jun 3.
Movement disorders as well as peripheral neuropathies are extremely frequent in the general population; therefore, it is not uncommon to encounter patients with both these conditions. Often, the coexistence is coincidental, due to the high incidence of common causes of peripheral neuropathy, such as diabetes and other age-related disorders, as well as of Parkinson disease (PD), which has a typical late onset. Nonetheless, there is broad evidence that PD patients may commonly develop a sensory and/or autonomic polyneuropathy, triggered by intrinsic and/or extrinsic mechanisms. Similarly, some peripheral neuropathies may develop some movement disorders in the long run, such as tremor, and rarely dystonia and myoclonus, suggesting that central mechanisms may ensue in the pathogenesis of these diseases. Although rare, several acquired or hereditary causes may be responsible for the combination of movement and peripheral nerve disorders as a unique entity, some of which are potentially treatable, including paraneoplastic, autoimmune and nutritional aetiologies. Finally, genetic causes should be pursued in case of positive family history, young onset or multisystemic involvement, and examined for neuroacanthocytosis, spinocerebellar ataxias, mitochondrial disorders and less common causes of adult-onset cerebellar ataxias and spastic paraparesis. Deep phenotyping in terms of neurological and general examination, as well as laboratory tests, neuroimaging, neurophysiology, and next-generation genetic analysis, may guide the clinician toward the correct diagnosis and management.
运动障碍和周围神经病在普通人群中极为常见；因此，同时遇到这两种疾病的患者并不罕见。通常，共存是偶然的，这是由于常见的周围神经病的原因，如糖尿病和其他与年龄相关的疾病，以及帕金森病（PD）的发病率很高，PD 通常发病较晚。尽管如此，有广泛的证据表明 PD 患者可能会经常发生感觉和/或自主多发性神经病，这是由内在和/或外在机制引发的。同样，一些周围神经病可能会在长期发展中出现一些运动障碍，如震颤，很少出现肌张力障碍和肌阵挛，这表明中枢机制可能参与这些疾病的发病机制。尽管罕见，但一些获得性或遗传性原因可能导致运动和周围神经障碍的组合作为一种独特的实体，其中一些是潜在可治疗的，包括副肿瘤性、自身免疫性和营养性病因。最后，如果有阳性家族史、发病年龄较早或多系统受累，应考虑神经棘红细胞增多症、脊髓小脑共济失调、线粒体疾病以及较少见的成人发病小脑共济失调和痉挛性截瘫的遗传原因。神经学和一般检查、实验室检查、神经影像学、神经生理学和下一代遗传分析的深入表型分析可能有助于临床医生做出正确的诊断和治疗。
