Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.
Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.
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DOI：
10.1007/s00401-017-1739-1
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发表时间：
2017-09
影响因子：
12.7
通讯作者：
Bugiani M
中科院分区：
文献类型：
--
作者：
van der Knaap MS;Bugiani M
脑白质营养不良是以中枢神经系统白色物质的选择性参与为特征的遗传决定的疾病。发病可能发生在任何年龄，从出生前到衰老。许多脑白质营养不良本质上是退行性的，但有些仅损害白色物质功能。临床过程大多是渐进的，但也可能是静态的，甚至随着时间的推移而改善。进行性脑白质营养不良通常是致命的，并且没有治愈性治疗是已知的。在过去的十年中，由于磁共振成像模式识别和下一代测序相结合的诊断方法，已确定的脑白质营养不良的数量大幅增加。关于白色物质生理学和病理学的知识也有了显著的提高。这导致认识到，只有少数脑白质营养不良是由于髓鞘或少突胶质细胞特异性基因的突变，而许多是由其他白色物质结构成分，包括星形胶质细胞，小胶质细胞，轴突和血管的缺陷引起的。我们在这里提出了一个新的分类脑白质营养不良，考虑到任何白色物质成分的主要参与。该分类中的类别是由于少突胶质细胞或髓磷脂中的原发性缺陷引起的髓磷脂病症（髓鞘生成不足和脱髓鞘性脑白质营养不良、伴有髓磷脂空泡化的脑白质营养不良）;星形细胞病;脑白质轴突病;小胶质细胞病;和脑白质血管病。按照这种分类，我们举例说明了一些脑白质营养不良的神经病理学和疾病机制。一些脑白质营养不良属于不止一个类别。考虑到白色物质病理学背后复杂的分子和细胞相互作用，认识疾病背后的细胞病理学在解决可能的治疗策略方面变得至关重要。
Leukodystrophies are genetically determined disorders characterized by the selective involvement of the central nervous system white matter. Onset may be at any age, from prenatal life to senescence. Many leukodystrophies are degenerative in nature, but some only impair white matter function. The clinical course is mostly progressive, but may also be static or even improving with time. Progressive leukodystrophies are often fatal, and no curative treatment is known. The last decade has witnessed a tremendous increase in the number of defined leukodystrophies also owing to a diagnostic approach combining magnetic resonance imaging pattern recognition and next generation sequencing. Knowledge on white matter physiology and pathology has also dramatically built up. This led to the recognition that only few leukodystrophies are due to mutations in myelin- or oligodendrocyte-specific genes, and many are rather caused by defects in other white matter structural components, including astrocytes, microglia, axons and blood vessels. We here propose a novel classification of leukodystrophies that takes into account the primary involvement of any white matter component. Categories in this classification are the myelin disorders due to a primary defect in oligodendrocytes or myelin (hypomyelinating and demyelinating leukodystrophies, leukodystrophies with myelin vacuolization); astrocytopathies; leuko-axonopathies; microgliopathies; and leuko-vasculopathies. Following this classification, we illustrate the neuropathology and disease mechanisms of some leukodystrophies taken as example for each category. Some leukodystrophies fall into more than one category. Given the complex molecular and cellular interplay underlying white matter pathology, recognition of the cellular pathology behind a disease becomes crucial in addressing possible treatment strategies.
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影响因子：
14.5
作者：
BORRETT, D;BECKER, LE
通讯作者：
BECKER, LE
影响因子：
12.7
作者：
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通讯作者：
Wszolek, ZK
DOI：
10.1097/nen.0000000000000168
发表时间：
2015-03-01
影响因子：
3.2
作者：
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通讯作者：
Ang, Lee-Cyn
影响因子：
12.7
作者：
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通讯作者：
van der Knaap, Marjo S.
影响因子：
5.6
作者：
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通讯作者：
Linington, Christopher