Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders
作者： Wai Yan Yau , Jana Vandrovcova , Roisin Sullivan , Zhongbo Chen , Anna Zecchinelli
DOI: 10.1002/MDS.28302
关键词:
摘要: Background The objective of this study was to determine the prevalence GGC-repeat expansion in NOTCH2NLC whites presenting with movement disorders. Methods We searched for using repeat-primed polymerase chain reaction 203 patients essential tremor, 825 PD, 194 spinocerebellar ataxia, 207 "possible" or "probable" MSA, and 336 pathologically confirmed MSA. also screened 30,008 enrolled 100,000 Genomes Project same mutation ExpansionHunter, followed by reaction. All possible expansions were Southern blotting and/or long-read sequencing. Results identified 1 patient who carried tremor cohort, recurrent encephalopathy postural tremor/parkinsonism Project. Conclusions is rare In addition, existing whole-genome sequencing data are useful case ascertainment. © 2020 Authors. Movement Disorders published Wiley Periodicals LLC on behalf International Parkinson Disorder Society.
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