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Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. / Dewan, Ramita; Chia, Ruth; Ding, Jinhui; Hickman, Richard A.; Stein, Thor D.; Abramzon, Yevgeniya; Ahmed, Sarah; Sabir, Marya S.; Portley, Makayla K.; Tucci, Arianna; Ibáñez, Kristina; Shankaracharya, F. N.U.; Keagle, Pamela; Rossi, Giacomina; Caroppo, Paola; Tagliavini, Fabrizio; Waldo, Maria L.; Johansson, Per M.; Nilsson, Christer F.; Adeleye, Adelani; Alba, Camille; Bacikova, Dagmar; Hupalo, Daniel N.; Martinez, Elisa Mc Grath; Pollard, Harvey B.; Sukumar, Gauthaman; Soltis, Anthony R.; Tuck, Meila; Zhang, Xijun; Wilkerson, Matthew D.; Smith, Bradley N.; Ticozzi, Nicola; Fallini, Claudia; Gkazi, Athina Soragia; Topp, Simon D.; Kost, Jason; Scotter, Emma L.; Kenna, Kevin P.; Miller, Jack W.; Tiloca, Cinzia; Vance, Caroline; Danielson, Eric W.; Troakes, Claire; Colombrita, Claudia; Al-Sarraj, Safa; Lewis, Elizabeth A.; Nielsen, Jorgen E.; Hjermind, Lynne E.; Reynolds, Regina H.; Rowe, James B.; The PROSPECT Consortium; The American Genome Center (TAGC); The FALS Sequencing Consortium; The Genomics England Research Consortium; The International ALS/FTD Genomics Consortium (iAFGC); The International FTD Genetics Consortium (IFGC); The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium; the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank.
I:
Neuron, Bind 109, Nr. 3, 2021, s. 448-460.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Dewan, R, Chia, R, Ding, J, Hickman, RA, Stein, TD, Abramzon, Y, Ahmed, S, Sabir, MS, Portley, MK, Tucci, A, Ibáñez, K, Shankaracharya, FNU, Keagle, P, Rossi, G, Caroppo, P, Tagliavini, F, Waldo, ML, Johansson, PM, Nilsson, CF, Adeleye, A, Alba, C, Bacikova, D, Hupalo, DN, Martinez, EMG, Pollard, HB, Sukumar, G, Soltis, AR, Tuck, M, Zhang, X, Wilkerson, MD, Smith, BN, Ticozzi, N, Fallini, C, Gkazi, AS, Topp, SD, Kost, J, Scotter, EL, Kenna, KP, Miller, JW, Tiloca, C, Vance, C, Danielson, EW, Troakes, C, Colombrita, C, Al-Sarraj, S, Lewis, EA
, Nielsen, JE, Hjermind, LE, Reynolds, RH
, Rowe, JB, The PROSPECT Consortium, The American Genome Center (TAGC), The FALS Sequencing Consortium, The Genomics England Research Consortium, The International ALS/FTD Genomics Consortium (iAFGC), The International FTD Genetics Consortium (IFGC), The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium & the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank 2021, '
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis',
Neuron, bind 109, nr. 3, s. 448-460.
https://doi.org/10.1016/j.neuron.2020.11.005APA
Dewan, R., Chia, R., Ding, J., Hickman, R. A., Stein, T. D., Abramzon, Y., Ahmed, S., Sabir, M. S., Portley, M. K., Tucci, A., Ibáñez, K., Shankaracharya, F. N. U., Keagle, P., Rossi, G., Caroppo, P., Tagliavini, F., Waldo, M. L., Johansson, P. M., Nilsson, C. F., ... the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank (2021).
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Neuron,
109(3), 448-460.
https://doi.org/10.1016/j.neuron.2020.11.005Vancouver
Dewan R, Chia R, Ding J, Hickman RA, Stein TD, Abramzon Y o.a.
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Neuron. 2021;109(3):448-460.
https://doi.org/10.1016/j.neuron.2020.11.005Author
Dewan, Ramita ; Chia, Ruth ; Ding, Jinhui ; Hickman, Richard A. ; Stein, Thor D. ; Abramzon, Yevgeniya ; Ahmed, Sarah ; Sabir, Marya S. ; Portley, Makayla K. ; Tucci, Arianna ; Ibáñez, Kristina ; Shankaracharya, F. N.U. ; Keagle, Pamela ; Rossi, Giacomina ; Caroppo, Paola ; Tagliavini, Fabrizio ; Waldo, Maria L. ; Johansson, Per M. ; Nilsson, Christer F. ; Adeleye, Adelani ; Alba, Camille ; Bacikova, Dagmar ; Hupalo, Daniel N. ; Martinez, Elisa Mc Grath ; Pollard, Harvey B. ; Sukumar, Gauthaman ; Soltis, Anthony R. ; Tuck, Meila ; Zhang, Xijun ; Wilkerson, Matthew D. ; Smith, Bradley N. ; Ticozzi, Nicola ; Fallini, Claudia ; Gkazi, Athina Soragia ; Topp, Simon D. ; Kost, Jason ; Scotter, Emma L. ; Kenna, Kevin P. ; Miller, Jack W. ; Tiloca, Cinzia ; Vance, Caroline ; Danielson, Eric W. ; Troakes, Claire ; Colombrita, Claudia ; Al-Sarraj, Safa ; Lewis, Elizabeth A. ; Nielsen, Jorgen E. ; Hjermind, Lynne E. ; Reynolds, Regina H. ; Rowe, James B. ; The PROSPECT Consortium ; The American Genome Center (TAGC) ; The FALS Sequencing Consortium ; The Genomics England Research Consortium ; The International ALS/FTD Genomics Consortium (iAFGC) ; The International FTD Genetics Consortium (IFGC) ; The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium ; the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank. / Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis. I: Neuron. 2021 ; Bind 109, Nr. 3. s. 448-460.
Bibtex
@article{34096b3c2f564ad4befb1d0096758484,
title = "Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis",
abstract = "We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40–64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.",
keywords = "amyotrophic lateral sclerosis, frontotemporal dementia, huntingtin, repeat expansions, whole-genome sequencing",
author = "Ramita Dewan and Ruth Chia and Jinhui Ding and Hickman, {Richard A.} and Stein, {Thor D.} and Yevgeniya Abramzon and Sarah Ahmed and Sabir, {Marya S.} and Portley, {Makayla K.} and Arianna Tucci and Kristina Ib{\'a}{\~n}ez and Shankaracharya, {F. N.U.} and Pamela Keagle and Giacomina Rossi and Paola Caroppo and Fabrizio Tagliavini and Waldo, {Maria L.} and Johansson, {Per M.} and Nilsson, {Christer F.} and Adelani Adeleye and Camille Alba and Dagmar Bacikova and Hupalo, {Daniel N.} and Martinez, {Elisa Mc Grath} and Pollard, {Harvey B.} and Gauthaman Sukumar and Soltis, {Anthony R.} and Meila Tuck and Xijun Zhang and Wilkerson, {Matthew D.} and Smith, {Bradley N.} and Nicola Ticozzi and Claudia Fallini and Gkazi, {Athina Soragia} and Topp, {Simon D.} and Jason Kost and Scotter, {Emma L.} and Kenna, {Kevin P.} and Miller, {Jack W.} and Cinzia Tiloca and Caroline Vance and Danielson, {Eric W.} and Claire Troakes and Claudia Colombrita and Safa Al-Sarraj and Lewis, {Elizabeth A.} and Nielsen, {Jorgen E.} and Hjermind, {Lynne E.} and Reynolds, {Regina H.} and Rowe, {James B.} and {The PROSPECT Consortium} and {The American Genome Center (TAGC)} and {The FALS Sequencing Consortium} and {The Genomics England Research Consortium} and {The International ALS/FTD Genomics Consortium (iAFGC)} and {The International FTD Genetics Consortium (IFGC)} and {The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium} and {the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank}",
note = "Publisher Copyright: {\textcopyright} 2020",
year = "2021",
doi = "10.1016/j.neuron.2020.11.005",
language = "English",
volume = "109",
pages = "448--460",
journal = "Neuron",
issn = "0896-6273",
publisher = "Cell Press",
number = "3",
}
RIS
TY - JOUR
T1 - Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
AU - Dewan, Ramita
AU - Chia, Ruth
AU - Ding, Jinhui
AU - Hickman, Richard A.
AU - Stein, Thor D.
AU - Abramzon, Yevgeniya
AU - Ahmed, Sarah
AU - Sabir, Marya S.
AU - Portley, Makayla K.
AU - Tucci, Arianna
AU - Ibáñez, Kristina
AU - Shankaracharya, F. N.U.
AU - Keagle, Pamela
AU - Rossi, Giacomina
AU - Caroppo, Paola
AU - Tagliavini, Fabrizio
AU - Waldo, Maria L.
AU - Johansson, Per M.
AU - Nilsson, Christer F.
AU - Adeleye, Adelani
AU - Alba, Camille
AU - Bacikova, Dagmar
AU - Hupalo, Daniel N.
AU - Martinez, Elisa Mc Grath
AU - Pollard, Harvey B.
AU - Sukumar, Gauthaman
AU - Soltis, Anthony R.
AU - Tuck, Meila
AU - Zhang, Xijun
AU - Wilkerson, Matthew D.
AU - Smith, Bradley N.
AU - Ticozzi, Nicola
AU - Fallini, Claudia
AU - Gkazi, Athina Soragia
AU - Topp, Simon D.
AU - Kost, Jason
AU - Scotter, Emma L.
AU - Kenna, Kevin P.
AU - Miller, Jack W.
AU - Tiloca, Cinzia
AU - Vance, Caroline
AU - Danielson, Eric W.
AU - Troakes, Claire
AU - Colombrita, Claudia
AU - Al-Sarraj, Safa
AU - Lewis, Elizabeth A.
AU - Nielsen, Jorgen E.
AU - Hjermind, Lynne E.
AU - Reynolds, Regina H.
AU - Rowe, James B.
AU - The PROSPECT Consortium
AU - The American Genome Center (TAGC)
AU - The FALS Sequencing Consortium
AU - The Genomics England Research Consortium
AU - The International ALS/FTD Genomics Consortium (iAFGC)
AU - The International FTD Genetics Consortium (IFGC)
AU - The International LBD Genomics Consortium (iLBDGC), The NYGC ALS Consortium
AU - the University of Maryland Brain and Tissue Bank and NIH NeuroBioBank
N1 - Publisher Copyright:
© 2020
PY - 2021
Y1 - 2021
N2 - We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40–64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.
AB - We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40–64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.
KW - amyotrophic lateral sclerosis
KW - frontotemporal dementia
KW - huntingtin
KW - repeat expansions
KW - whole-genome sequencing
U2 - 10.1016/j.neuron.2020.11.005
DO - 10.1016/j.neuron.2020.11.005
M3 - Journal article
C2 - 33242422
AN - SCOPUS:85097045939
VL - 109
SP - 448
EP - 460
JO - Neuron
JF - Neuron
SN - 0896-6273
IS - 3
ER -
