TY  - INPR
N1  - This is an open access article under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
A1  - Yau, WY
A1  - Vandrovcova, J
A1  - Sullivan, R
A1  - Chen, Z
A1  - Zecchinelli, A
A1  - Cilia, R
A1  - Stefano, D
A1  - Murray, M
A1  - Carmona, S
A1  - Genomics England Research Consortium
A1  - Chelban, V
A1  - Ishiura, H
A1  - Tsuji, S
A1  - Jaunmuktane, Z
A1  - Turner, C
A1  - Wood, NW
A1  - Houlden, H
JF  - Movement Disorders
KW  - trinucleotide repeat diseases; spinocerebellar ataxia; Parkinson?s disease; tremor; multiple system atrophy
Y1  - 2020/10/07/
TI  - Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients With Movement Disorders
AV  - public
N2  - Background:
The objective of this study was to determine the prevalence of the GGC?repeat expansion in NOTCH2NLC in whites presenting with movement disorders.
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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.
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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.
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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.
ID  - discovery10112259
UR  - https://doi.org/10.1002/mds.28302
ER  -