Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

被引:15
|
作者
Dobson-Stone, Carol [1 ,2 ]
Shaw, Alex D. [1 ,3 ]
Hallupp, Marianne [1 ]
Bartley, Lauren [1 ]
McCann, Heather [1 ]
Brooks, William S. [1 ,4 ]
Loy, Clement T. [5 ]
Schofield, Peter R. [1 ,2 ]
Mather, Karen A. [6 ]
Kochan, Nicole A. [6 ]
Sachdev, Perminder S. [6 ,7 ]
Halliday, Glenda M. [1 ,2 ]
Piguet, Olivier [1 ,2 ]
Hodges, John R. [1 ,2 ]
Kwok, John B. J. [1 ,2 ]
机构
[1] Neurosci Res Australia, Sydney, NSW, Australia
[2] Univ New S Wales, Sch Med Sci, Sydney, NSW, Australia
[3] Schizophrenia Res Inst, Sydney, NSW, Australia
[4] Univ New S Wales, Prince Wales Clin Sch, Sydney, NSW, Australia
[5] Univ Sydney, Sch Publ Hlth, Sydney, NSW 2006, Australia
[6] Univ New S Wales, Sch Psychiat, Ctr Hlth Brain Ageing, Sydney, NSW, Australia
[7] Prince Wales Hosp, Inst Neuropsychiat, Sydney, NSW, Australia
关键词
COMMON-CAUSE; MUTATIONS; GENE;
D O I
10.1093/brain/awv115
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:E385 / U17
页数:4
相关论文
共 50 条
  • [21] Amyotrophic lateral sclerosis and frontotemporal dementia
    Kiernan, Matthew C.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2012, 83 (04): : 355 - 355
  • [22] 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
    Ibanez, Kristina
    Shankaracharya, F. N. U.
    Keagle, Pamela
    Rossi, Giacomina
    Caroppo, Paola
    Tagliavini, Fabrizio
    Waldo, Maria L.
    Johansson, Per M.
    Nilsson, Christer F.
    Rowe, James B.
    Benussi, Luisa
    Binetti, Giuliano
    Ghidoni, Roberta
    Jabbari, Edwin
    Viollet, Coralie
    Glass, Jonathan D.
    Singleton, Andrew B.
    Silani, Vincenzo
    Ross, Owen A.
    Ryten, Mina
    Torkamani, Ali
    Tanaka, Toshiko
    Ferrucci, Luigi
    Resnick, Susan M.
    Pickering-Brown, Stuart
    Brady, Christopher B.
    Kowal, Neil
    Hardy, John A.
    Van Deerlin, Vivianna
    Vonsattel, Jean Paul
    Harms, Matthew B.
    Morris, Huw R.
    Ferrari, Raffaele
    Landers, John E.
    Chio, Adriano
    Gibbs, J. Raphael
    Dalgard, Clifton L.
    Scholz, Sonja W.
    Traynor, Bryan J.
    NEURON, 2021, 109 (03) : 448 - 460.e4
  • [23] High prevalence of CHCHD10 mutation in patients with frontotemporal dementia from China
    Jiao, Bin
    Xiao, Tingting
    Hou, Lihua
    Gu, Xiaohua
    Zhou, Yafang
    Zhou, Lin
    Tang, Beisha
    Xu, Jun
    Shen, Lu
    BRAIN, 2016, 139
  • [24] Characterization of amyotrophic lateral sclerosis and frontotemporal dementia
    Lomen-Hoerth, C
    DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 2004, 17 (04) : 337 - 341
  • [25] A Case of Frontotemporal Dementia with Amyotrophic Lateral Sclerosis
    Tertan, Delia Smaranda
    DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 2012, 33 : 196 - 196
  • [26] The overlap of amyotrophic lateral sclerosis and frontotemporal dementia
    Lomen-Hoerth, C
    Anderson, T
    Miller, B
    NEUROLOGY, 2002, 59 (07) : 1077 - 1079
  • [27] Frontotemporal Dysfunction and Dementia in Amyotrophic Lateral Sclerosis
    Woolley, Susan C.
    Strong, Michael J.
    NEUROLOGIC CLINICS, 2015, 33 (04) : 787 - 805
  • [28] Primary lateral sclerosis and the amyotrophic lateral sclerosis–frontotemporal dementia spectrum
    Smriti Agarwal
    Elizabeth Highton-Williamson
    Jashelle Caga
    José M. Matamala
    Thanuja Dharmadasa
    James Howells
    Margaret C. Zoing
    Kazumoto Shibuya
    Nimeshan Geevasinga
    Steve Vucic
    John R. Hodges
    Rebekah M. Ahmed
    Matthew C. Kiernan
    Journal of Neurology, 2018, 265 : 1819 - 1828
  • [29] Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China
    Bannwarth, Sylvie
    Ait-El-Mkadem, Samira
    Chaussenot, Annabelle
    Genin, Emmanuelle C.
    Lacas-Gervais, Sandra
    Fragaki, Konstantina
    Berg-Alonso, Laetitia
    Kageyama, Yusuke
    Serre, Valerie
    Moore, David
    Verschueren, Annie
    Rouzier, Cecile
    Le Ber, Isabelle
    Auge, Gaelle
    Cochaud, Charlotte
    Lespinasse, Francoise
    N'Guyen, Karine
    de Septenville, Anne
    Brice, Alexis
    Yu-Wai-Man, Patrick
    Sesaki, Hiromi
    Pouget, Jean
    Paquis-Flucklinger, Veronique
    BRAIN, 2016, 139
  • [30] Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes
    Schymick, J. C.
    Yang, Y.
    Andersen, P. M.
    Vonsattel, J. P.
    Greenway, M.
    Momeni, P.
    Elder, J.
    Chio, A.
    Restagno, G.
    Robberecht, W.
    Dahlberg, C.
    Mukherjee, O.
    Goate, A.
    Graff-Radford, N.
    Caselli, R. J.
    Hutton, M.
    Gass, J.
    Cannon, A.
    Rademakers, R.
    Singleton, A. B.
    Hardiman, O.
    Rothstein, J.
    Hardy, J.
    Traynor, B. J.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2007, 78 (07): : 754 - 756