Simoncini Costanza, Spadoni Giulia, Lai Elisa, Santoni Lorenza, Angelini Corrado, Ricci Giulia, Siciliano Gabriele
Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
IRCCS S.Camillo Hospital, Venice, Italy.
Front Neurol. 2020 Oct 7;11:624. doi: 10.3389/fneur.2020.00624. eCollection 2020.
Increasing evidences indicate that in Myotonic Dystrophy type 1 (DM1 or Steinert disease), an autosomal dominant multisystem disorder caused by a (CTG)n expansion in DMPK gene on chromosome 19q13. 3, is the most common form of inherited muscular dystrophy in adult patients with a global prevalence of 1/8000, and involvement of the central nervous system can be included within the core clinical manifestations of the disease. Variable in its severity and progression rate over time, likely due to the underlying causative molecular mechanisms; this component of the clinical picture presents with high heterogeneity involving cognitive and behavioral alterations, but also sensory-motor neural integration, and in any case, significantly contributing to the disease burden projected to either specific functional neuropsychological domains or quality of life as a whole. Principle manifestations include alterations of the frontal lobe function, which is more prominent in patients with an early onset, such as in congenital and childhood onset forms, here associated with severe intellectual disabilities, speech and language delay and reduced IQ-values, while in adult onset DM1 cognitive and neuropsychological findings are usually not so severe. Different methods to assess central nervous system involvement in DM1 have then recently been developed, these ranging from more classical psychometric and cognitive functional instruments to sophisticated psycophysic, neurophysiologic and especially computerized neuroimaging techniques, in order to better characterize this disease component, at the same time underlining the opportunity to consider it a suitable marker on which measuring putative effectiveness of therapeutic interventions. This is the reason why, as outlined in the conclusive section of this review, the Authors are lead to wonder, perhaps in a provocative and even paradoxical way to arise the question, whether or not the myologist, by now the popular figure in charge to care of a patient with the DM1, needs to remain himself a neurologist to better appreciate, evaluate and speculate on this important aspect of Steinert disease.
越来越多的证据表明，1型强直性肌营养不良症（DM1或斯坦纳特病）是一种常染色体显性多系统疾病，由19号染色体长臂1区3带（19q13.3）上的DMPK基因中的（CTG）n扩增引起，是成年患者中最常见的遗传性肌营养不良形式，全球患病率为1/8000，中枢神经系统受累可纳入该疾病的核心临床表现。其严重程度和随时间的进展速度各不相同，这可能是由于潜在的致病分子机制所致；临床表现的这一组成部分具有高度异质性，涉及认知和行为改变，也包括感觉运动神经整合，无论如何，它对特定功能神经心理领域或整体生活质量的疾病负担有显著影响。主要表现包括额叶功能改变，这在早发型患者中更为突出，如先天性和儿童期发病形式，在此情况下与严重智力残疾、言语和语言发育迟缓以及智商值降低有关，而在成人发病的DM1中，认知和神经心理学表现通常不那么严重。最近已经开发出不同的方法来评估DM1中枢神经系统受累情况，这些方法从更经典的心理测量和认知功能仪器到复杂的心理物理学、神经生理学，尤其是计算机化神经成像技术，以便更好地描述该疾病组成部分，同时强调有机会将其视为衡量治疗干预假定有效性的合适标志物。这就是为什么，正如本综述结论部分所概述的，作者们不禁要问，也许是以一种挑衅甚至自相矛盾的方式提出这个问题，即负责照顾DM1患者的肌病专家是否仍需自己成为一名神经学家，以便更好地理解、评估和思考斯坦纳特病的这一重要方面。
