Genetic disorders and cerebellar structural abnormalities in childhood

被引:71
作者
Ramaekers, VT
Heimann, G
Reul, J
Thron, A
Jaeken, J
机构
[1] UNIV HOSP,DIV PAEDIAT NEUROL,AACHEN,GERMANY
[2] UNIV HOSP,DEPT PAEDIAT,AACHEN,GERMANY
[3] UNIV HOSP,DEPT NEURORADIOL,AACHEN,GERMANY
[4] KATHOLIEKE UNIV LEUVEN,DIV METAB & NUTR,DEPT PAEDIAT,B-3001 LOUVAIN,BELGIUM
关键词
cerebellar structural abnormalities; genetic disorders; inborn errors of metabolism; syndromal disorders;
D O I
10.1093/brain/120.10.1739
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Amongst 78 patients with either unilateral or bilateral (ponto-) cerebellar hypoplasia, atrophy or lesions on neuro-imaging (CT and/or MRI), 16 showed unilateral hypoplasia or lesions, 15 vermis defects, nine pontocerebellar hypoplasia, 10 non-progressive conditions with bilateral cerebellar hemisphere hypoplasia or lesions and 28 progressive cerebellar atrophy. Known genetic conditions did not occur with unilateral cerebellar involvement, whereas a high incidence of mostly autosomal recessively inherited diseases could be diagnosed in more than half of the patients with either pontocerebellar hypoplasia or progressive bilateral cerebellar atrophy. A minority of patients with vermis defects or non-progressive cerebellar hypoplasia suffered from genetic conditions. An overview of the literature is presented describing genetic and non-genetic syndromes, or metabolic disorders associated with cerebellar structural abnormalities. Front these data, new proposals for improved diagnostic investigations will be presented.
引用
收藏
页码:1739 / 1751
页数:13
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