Mochida G H, Walsh C A
Division of Neurogenetics, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, Massachusetts 02115, USA.
Curr Opin Neurol. 2001 Apr;14(2):151-6. doi: 10.1097/00019052-200104000-00003.
Human microcephaly comprises a heterogeneous group of conditions that are characterized by a failure of normal brain growth. Microcephaly can be caused by many injurious or degenerative conditions, or by developmental malformations in which the growth of the brain is impaired as a result of defects in pattern formation, cell proliferation, cell survival, cell differentiation, or cell growth. These latter forms of congenital microcephaly are frequently inherited, usually as recessive traits, and are associated with mental retardation and sometimes epilepsy. Some of the genes that cause congenital microcephaly are likely to control crucial aspects of neural development, and may also be involved in the evolutionary explosion of cortical size that characterizes primates. There has recently been a rapid advance in the use of genetic mapping techniques to identify genetic loci responsible for microcephaly. Although several loci have been mapped, the condition is clearly genetically and clinically heterogeneous.
人类小头畸形包括一组异质性病症，其特征为正常脑生长失败。小头畸形可由许多损伤性或退行性病症引起，或由发育畸形引起，在这些发育畸形中，由于模式形成、细胞增殖、细胞存活、细胞分化或细胞生长缺陷，大脑生长受到损害。这些先天性小头畸形的后几种形式通常为隐性遗传，并与智力迟钝以及有时与癫痫有关。一些导致先天性小头畸形的基因可能控制神经发育的关键方面，也可能参与了灵长类动物特有的皮质大小的进化性扩张。最近，在使用基因定位技术来识别导致小头畸形的基因位点方面取得了迅速进展。尽管已经定位了几个基因位点，但这种病症在遗传和临床方面显然是异质性的。
