Barth P G, Blennow G, Lenard H G, Begeer J H, van der Kley J M, Hanefeld F, Peters A C, Valk J
Division of Pediatric Neurology, University Hospital, Amsterdam, The Netherlands.
Neurology. 1995 Feb;45(2):311-7. doi: 10.1212/wnl.45.2.311.
The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, severely impaired mental and motor development, and extrapyramidal dyskinesia is a distinct system degeneration, previously designated pontocerebellar hypoplasia type 2 (PCH-2). To further characterize its clinical and neuroimaging features, we compiled data from 10 nonrelated pedigrees. Six pedigrees were Dutch, two Swedish, and two German. All 16 patients showed an identical profile of virtually absent developmental milestones, early-onset severe chorea, and microcephaly together with pontocerebellar hypoplasia. Family distribution supports autosomal recessive transmission. The present data support the PCH-2 phenotype as a distinct neurogenetic entity.
常染色体隐性遗传性脑桥小脑发育不全、小头畸形、严重智力和运动发育障碍以及锥体外系运动障碍综合征是一种独特的系统退化疾病，以前称为2型脑桥小脑发育不全（PCH-2）。为了进一步描述其临床和神经影像学特征，我们汇总了来自10个无亲缘关系家系的数据。其中6个家系来自荷兰，2个来自瑞典，2个来自德国。所有16例患者均表现出几乎没有发育里程碑、早发性严重舞蹈症、小头畸形以及脑桥小脑发育不全的相同特征。家系分布支持常染色体隐性遗传。目前的数据支持PCH-2表型是一种独特的神经遗传实体。
