Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations
Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations
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DOI：
10.1007/s00234-002-0783-1
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发表时间：
2002-08-01
期刊：
影响因子：
2.8
通讯作者：
Demaerel, P
中科院分区：
文献类型：
--
作者：
Demaerel, P
已经发现几个基因影响参与小鼠和大鼠小脑中叶状和裂隙形成过程的不同细胞。根据这些新概念，并根据42例患者的影像学表现，提出了叶状和裂隙异常的分类。最近的遗传和实验证据的基础上的机制，控制小脑的起源，它建议，异常的叶状和裂隙形成一个单一的组，与频谱的严重性。有些患者只有前叶的异常裂隙（1a型），其他患者则有前叶和部分后叶的额外发育不良（1b型）。在后一组中，常可见异常扩展到大脑半球。第二组有蠕虫和半球异常（2型）。除了小脑蚓部前叶的畸形，在这组中还可以看到三种不同的半球病变：皮质发育不全、小脑皮质肥大和叶定向不良。轻度异常（1a型）可视为偶然观察结果，无临床意义。中、重度小脑畸形（1b型和2型）常伴有小脑症状和/或体征。
Several genes have been found to influence the different cells involved in the processes of foliation and fissuration in the mouse and rat cerebellum. In the light of these new concepts and on the basis of the imaging findings in 42 patients, a classification is proposed for abnormalities of foliation and fissuration. On the basis of recent genetic and experimental evidence on mechanisms which control the origin of the cerebellum, it is suggested that abnormalities of foliation and fissuration form a single group, with a spectrum of severity. Some patients have only abnormal fissuration of the anterior lobe (type 1a) and others additional dysplasia of the anterior and part of the posterior lobe (type 1b). Extension of abnormalities into the hemispheres is often seen in the latter group. A second group has vermian and hemisphere abnormalities (type 2). In addition to the malformation of the anterior lobe of the vermis, three different hemispheric lesions can be seen in this group: cortical dysgenesis, hypertrophy of the cerebellar cortex, and malorientation of the folia. The mild abnormalities (type 1a) can be considered an incidental observation without clinical relevance. The moderate and severe cerebellar anomalies (type 1b and 2) are always associated with cerebellar symptoms and/or signs.