1型强直性肌营养不良症和脊髓小脑共济失调患者中同时存在的三核苷酸重复序列扩增

Coincident trinucleotide repeat expansions in a patient with myotonic dystrophy type 1 and spinocerebellar ataxia.

作者信息

Kolb Stephen J, Kissel John T

机构信息

Department of Neurology, The Ohio State University Medical Center, Columbus, OH 43210, USA.

出版信息

J Clin Neuromuscul Dis. 2008 Sep;10(1):22-3. doi: 10.1097/CND.0b013e318182105f.

DOI:10.1097/CND.0b013e318182105f

PMID:18772697

Abstract

This is a case report of a patient with confirmed myotonic dystrophy type 1 and spinocerebellar ataxia type 6. The coexistence of two trinucleotide repeat expansions in this family illustrates the importance of continued and vigilant diagnostic inquiry when a patient with a confirmed genetic abnormality has an atypical presentation. The coincidence of two trinucleotide repeat expansions in this patient may suggest an underlying error in DNA metabolism.

摘要

这是一份关于一名确诊为1型强直性肌营养不良症和6型脊髓小脑共济失调症患者的病例报告。该家族中两种三核苷酸重复序列扩增并存，说明当确诊有基因异常的患者出现非典型表现时，持续且警惕的诊断询问非常重要。该患者出现两种三核苷酸重复序列扩增的巧合情况，可能提示DNA代谢存在潜在缺陷。