Genetics of the polymicrogyria syndromes

被引:110
作者
Jansen, A
Andermann, E
机构
[1] Montreal Neurol Hosp & Inst, Neurogenet Unit, Montreal, PQ H3A 2B4, Canada
[2] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada
[3] McGill Univ, Dept Human Genet, Montreal, PQ, Canada
关键词
D O I
10.1136/jmg.2004.023952
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Polymicrogyria is a relatively common malformation of cortical development, characterised by multiple small gyri with abnormal cortical lamination. The different forms of polymicrogyria encompass a wide range of clinical, aetiological, and histological findings. Advances in imaging have improved the diagnosis and classification of the condition. The molecular basis of polymicrogyria is beginning to be elucidated with the identification of a gene, GPR56, for bilateral frontoparietal polymicrogyria. Functional studies of the GPR56 gene product will yield insights not only into the causes of polymicrogyria but also into the mechanisms of normal cortical development and the regional patterning of the cerebral cortex. Based on imaging studies, several other region specific patterns of polymicrogyria have been identified, and there is increasing evidence that these may also have a significant genetic component to their aetiology. This paper reviews current knowledge of the different polymicrogyria syndromes, with discussion of clinical and imaging features, patterns of inheritance, currently mapped loci, candidate genes, chromosomal abnormalities, and implications for genetic counselling.
引用
收藏
页码:369 / 378
页数:10
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