Nannucci Serena, Donnini Ida, Pantoni Leonardo
NEUROFARBA Department, Neuroscience section, University of Florence, Florence, Italy.
Stroke Unit and Neurology, Azienda Ospedaliero Universitaria Careggi, Florence, Italy.
J Neurol Sci. 2014 Dec 15;347(1-2):1-13. doi: 10.1016/j.jns.2014.09.020. Epub 2014 Sep 20.
The currently widespread use of neuroimaging has led neurologists to often face the problem of the differential diagnosis of white matter diseases. There are various forms of leukoencephalopathies (vascular, inflammatory and immunomediated, infectious, metabolic, neoplastic) and sometimes white matter lesions are expression of a genetic disease. While many inherited leukoencephalopathies fall in the child neurologist's interest, others may have a delayed or even a typical onset in the middle or old age. This field is rapidly growing and, in the last few years, many new inherited white matter diseases have been described and genetically defined. A non-delayed recognition of middle and old age inherited leukoencephalopathies appears important to avoid unnecessary tests and therapies in the patient and to possibly anticipate the diagnosis in relatives. The aim of this review is to provide a guide to direct the diagnostic process when facing a patient with a suspicion of an inherited form of leukoencephalopathy and with clinical onset in middle or old age. Based on a MEDLINE search from 1990 to 2013, we identified 24 middle and old age onset inherited leukoencephalopathies and reviewed in this relation the most recent findings focusing on their differential diagnosis. We provide summary tables to use as a check list of clinical and neuroimaging findings that are most commonly associated with these forms of leukoencephalopathies. When present, we reported specific characteristics of single diseases. Several genetic diseases may be suspected in patients with middle or old age and white matter abnormalities. In only few instances, pathognomonic clinical or associated neuroimaging features help identifying a specific disease. Therefore, a comprehensive knowledge of the characteristics of these inherited white matter diseases appears important to improve the diagnostic work-up, optimize the choice of genetic tests, increase the number of diagnosed patients, and stimulate the research interest in this field.
目前神经影像学的广泛应用使神经科医生经常面临白质疾病鉴别诊断的问题。白质脑病有多种形式（血管性、炎症性和免疫介导性、感染性、代谢性、肿瘤性），有时白质病变是一种遗传性疾病的表现。虽然许多遗传性白质脑病属于儿童神经科医生的关注范畴，但其他一些可能在中年或老年有延迟甚至典型的发病。这个领域正在迅速发展，在过去几年里，许多新的遗传性白质疾病已被描述并进行了基因定义。对中年和老年遗传性白质脑病的及时识别对于避免患者进行不必要的检查和治疗以及可能提前对亲属做出诊断显得很重要。这篇综述的目的是提供一个指南，以便在面对疑似遗传性白质脑病且临床发病于中年或老年的患者时指导诊断过程。基于1990年至2013年的MEDLINE检索，我们确定了24种中年和老年发病的遗传性白质脑病，并就此回顾了最新的研究结果，重点关注它们的鉴别诊断。我们提供总结表格，用作这些形式的白质脑病最常相关的临床和神经影像学发现的核对清单。如有，我们报告了单一疾病的具体特征。中年或老年且有白质异常的患者可能会怀疑患有几种遗传性疾病。只有在少数情况下，特征性的临床或相关神经影像学特征有助于识别特定疾病。因此，全面了解这些遗传性白质疾病的特征对于改进诊断检查、优化基因检测选择、增加确诊患者数量以及激发该领域的研究兴趣显得很重要。
