@article{1752c1ff0f1f4e25a77c6ae38dc81634,
title = " CAG Somatic Instability in a Huntington Disease Expansion Carrier Presenting with a Progressive Supranuclear Palsy-like Phenotype",
keywords = "Huntington's disease; PSP; CAG repeat; mosaicism; TDP-43; somatic instability",
author = "Ramita Dewan and Zane Jaunmuktane and Garcia-Segura, {Monica Emili} and Catherine Strand and Edward Wild and Joaquin Villar and Dalgard, {Clifton L.} and Tabrizi, {Sarah J.} and Traynor, {Bryan J.} and Christos Proukakis",
note = "Funding Information: Z.J. is supported by the Department of Health's The National Institute for Health and Care Research (NIHR) Biomedical Research Centre's funding scheme to University College London Hospital (UCLH). This work was supported in part by the Intramural Research Programs of the National Institutes of Health (NIH), National Institute on Aging (Z01‐AG000949‐02). This work was supported in part by the Program Objective Memorandum of the Department of Defense (HU0001‐20‐20037). Funding agencies: Funding Information: We are grateful to the staff at the Queen Square Brain Bank for Neurological Disorders, University College London (UCL), and the Laboratory of Neurogenetics, National Institute on Aging, for their technical assistance. We are also grateful to the patients who kindly donated their brains and to Darren Monckton for helpful comments. Funding Information: Z.J. received a grant from Aligning Science Against Parkinson's (not related to this work) and belongs to the editorial board member of Acta Neuropathologica. E.W. reports grants from CHDI Foundation, and F. Hoffmann‐La Roche; he receives personal fees from Hoffman La Roche, Triplet Therapeutics, PTC Therapeutics, Annexon Pharmaceuticals, Teitur Trophics, Vico Life Sciences, and Takeda. All honoraria for these consultancies were paid through the offices of UCL Consultants, a wholly owned subsidiary of University College London. University College London Hospitals National Health Service (NHS) Foundation Trust has received funds as compensation for conducting clinical trials for Ionis Pharmaceuticals, Roche, Pfizer, and Teva Pharmaceuticals. S.J.T. received research grant funding from the CHDI Foundation, Vertex Pharmaceuticals, the United Kingdom (UK) Medical Research Council, the Wellcome Trust (ref. 200,181/Z/15/Z), and the UK Dementia Research Institute that receives its funding from DRI, funded by the UK MRC, Alzheimer's Society, and Alzheimer's Research UK. In the past 12 months, through the offices of UCL Consultants, a wholly owned subsidiary of University College London, S.J.T. has undertaken consultancy services for Adrestia Therapeutics, Alnylam Pharmaceuticals, Atalanta Pharmaceuticals, F. Hoffmann‐La Roche, Guidepoint, Locanobio, LoQus23 Therapeutics, Novartis Pharma, PTC Therapeutics, Sanofi, Takeda Pharmaceuticals, Triplet Therapeutics, and University College Irvine. S.J.T. has a patent on the FAN1‐MLH1 interaction and structural analogs for the treatment of disease (application number 2105484.6) licensed to Adrestia Therapeutics. B.J.T. has received funding from Intramural Research Program of the National Institutes of Health, the editorial board member for JAMA Neurology, JNNP, and Neurobiology of Aging. C.P. has received grants from Aligning Science Against Parkinson's and MSA Trust (not related to this work). He belongs to the editorial board member for Frontiers in Neurology (neurogenetics section). R.D., M.E.G.S., J.V., C.D., and C.S. have no disclosures to report.",
year = "2022",
month = jul,
doi = "10.1002/mds.29035",
language = "English",
volume = "37",
pages = "1555--1557",
journal = "Movement Disorders",
issn = "0885-3185",
number = "7",
}