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Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders
Author(s) -
Yau Wai Yan,
Vandrovcova Jana,
Sullivan Roisin,
Chen Zhongbo,
Zecchinelli Anna,
Cilia Roberto,
Duga Stefano,
Murray Malgorzata,
Carmona Susana,
Chelban Viorica,
Ishiura Hiroyuki,
Tsuji Shoji,
Jaunmuktane Zane,
Turner Chris,
Wood Nicholas W.,
Houlden Henry
Publication year - 2021
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.28302
Subject(s) - parkinsonism , movement disorders , essential tremor , spinocerebellar ataxia , trinucleotide repeat expansion , ataxia , medicine , cohort , genetics , biology , physical medicine and rehabilitation , psychiatry , disease , allele , gene
Background The objective of this study was to determine the prevalence of the GGC‐repeat expansion in NOTCH2NLC in whites presenting with movement disorders. Methods We searched for the GGC‐repeat expansion in NOTCH2NLC using repeat‐primed polymerase chain reaction in 203 patients with essential tremor, 825 patients with PD, 194 patients with spinocerebellar ataxia, 207 patients with “possible” or “probable” MSA, and 336 patients with pathologically confirmed MSA. We also screened 30,008 patients enrolled in the 100,000 Genomes Project for the same mutation using ExpansionHunter, followed by repeat‐primed polymerase chain reaction. All possible expansions were confirmed by Southern blotting and/or long‐read sequencing. Results We identified 1 patient who carried the NOTCH2NLC mutation in the essential tremor cohort, and 1 patient presenting with recurrent encephalopathy and postural tremor/parkinsonism in the 100,000 Genomes Project. Conclusions GGC‐repeat expansion in NOTCH2NLC is rare in whites presenting with movement disorders. In addition, existing whole‐genome sequencing data are useful in case ascertainment. © 2020 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society