Pediatric Neurology and Endocrinology, Hôpital St Vincent de Paul, Paris, France.
Orphanet J Rare Dis. 2011 Mar 10;6:8. doi: 10.1186/1750-1172-6-8.
To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA).
Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively. After ruling out known common genetic causes of ARCA, analysis of blood peroxisomal markers strongly suggested a peroxisomal biogenesis disorder. Sequencing of candidate PEX genes revealed a homozygous c.865_866insA mutation in the PEX2 gene leading to a frameshift 17 codons upstream of the stop codon. PEX gene mutations usually result in a severe neurological phenotype (Zellweger spectrum disorders).
Genetic screening of PEX2 and other PEX genes involved in peroxisomal biogenesis is warranted in children and adults with ARCA.
扩大常染色体隐性小脑共济失调（ARCA）遗传病因谱。
描述了两名兄弟，他们分别在 3 岁半和 18 岁时出现进行性小脑共济失调。在排除了已知的 ARCA 的常见遗传病因后，血液过氧化物酶体标志物的分析强烈提示过氧化物酶体生物发生障碍。候选 PEX 基因的测序显示 PEX2 基因中的纯合 c.865_866insA 突变导致移码 17 个密码子上游的终止密码子。PEX 基因突变通常导致严重的神经表型（Zellweger 谱障碍）。
对 ARCA 患儿和成人的 PEX2 和其他参与过氧化物酶体生物发生的 PEX 基因进行基因筛查是必要的。
