表现为脆性X震颤/共济失调表型综合征的POLG相关性共济失调

POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.

作者信息

Paucar Martin, Engvall Martin, Gordon Lisa, Tham Emma, Synofzik Matthis, Svenningsson Per

机构信息

Department of Neurology, Karolinska University Hospital, Stockholm, Sweden.

Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.

出版信息

Cerebellum. 2016 Oct;15(5):632-5. doi: 10.1007/s12311-016-0777-x.

DOI:10.1007/s12311-016-0777-x

PMID:27071669

Abstract

Hyperintensities in the middle cerebellar peduncles (MCP), known as the MCP sign, and progressive late-onset ataxia constitute major characteristics of the fragile X tremor/ataxia syndrome (FXTAS). Here, we describe a 60-year-old male affected by ataxia due to biallelic mutations in the mitochondrial polymerase gamma (POLG) gene in which hyperintensities of the middle cerebellar peduncles (MCP) were found. The initial suspicion of FXTAS was however ruled out by a normal CGG expansion size in the FMR1 gene. We discuss the features of late-onset POLG-A as a phenocopy of FXTAS.

摘要

小脑中间脚高信号，即所谓的MCP征，以及进行性迟发性共济失调是脆性X震颤/共济失调综合征（FXTAS）的主要特征。在此，我们描述了一名60岁男性，因线粒体聚合酶γ（POLG）基因双等位基因突变而出现共济失调，且发现其小脑中间脚有高信号。然而，FMR1基因中正常的CGG重复序列排除了最初对FXTAS的怀疑。我们讨论了迟发性POLG-A作为FXTAS拟表型的特征。