C9orf72 repeat expansions that cause frontotemporal dementia are detectable among patients with psychosis

被引：20

作者：

Watson, Annie ^{[1
]}

Pribadi, Mochtar ^{[2
,3
]}

Chowdari, Kodavali ^{[1
]}

Clifton, Sue ^{[1
]}

Wood, Joel ^{[1
]}

Miller, Bruce L. ^{[4
]}

Coppola, Giovanni ^{[2
,3
]}

Nimgaonkar, Vishwajit ^{[1
,5
]}

机构：

[1] Univ Pittsburgh, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA

[2] Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst Neurosci & Human Behav, Dept Psychiat, Los Angeles, CA 90095 USA

[3] Univ Calif Los Angeles, David Geffen Sch Med, Semel Inst Neurosci & Human Behav, Dept Neurol, Los Angeles, CA 90095 USA

[4] Univ Calif San Francisco, Memory & Aging Ctr, Sandler Neurosci Ctr, San Francisco, CA 94143 USA

[5] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15213 USA

来源：

PSYCHIATRY RESEARCH | 2016年 / 235卷

关键词：

Schizophrenia; Schizoaffective disorder; Dementia; HEXANUCLEOTIDE REPEAT; SCHIZOPHRENIA;

D O I：

10.1016/j.psychres.2015.12.007

中图分类号：

R749 [精神病学];

学科分类号：

100205 ;

摘要：

A pathologic hexanucleotide repeat expansion in C9orf72 causes frontotemporal dementia (FTD) or amyotrophic lateral sclerosis (ALS). Behavioral abnormalities can also occur among mutation carriers with FTD, but it is uncertain whether such mutations occur among persons with psychoses per se. Among participants in a genetic study of psychoses (N=739), two pairs of related individuals had C9orf72 expansions, of whom three were diagnosed with schizophrenia (SZ) schizoaffective disorder (SZA), but their clinical features did not suggest dementia or ALS. A few patients with SZ/SZA carry C9orf72 repeat expansions; such individuals are highly likely to develop FTD/ALS. (C) 2015 Elsevier Ireland Ltd. All rights reserved.

引用

页码：200 / 202

页数：3

共 50 条

[1] C9orf72 Repeat Expansions That Cause Frontotemporal Dementia Are Detectable Among Patients With Psychosis
Nimgaonkar, Vishwajit L.
Watson, Annie
Pribadi, Mochtar
Chowdari, Kodavali
Clifton, Sue
Wood, Joel
Miller, Bruce L.
Coppola, Giovanni
BIOLOGICAL PSYCHIATRY, 2016, 79 (09) : 223S - 224S
[2] C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients
Dobson-Stone, Carol
Hallupp, Marianne
Loy, Clement T.
Thompson, Elizabeth M.
Haan, Eric
Sue, Carolyn M.
Panegyres, Peter K.
Razquin, Cristina
Seijo-Martinez, Manuel
Rene, Ramon
Gascon, Jordi
Campdelacreu, Jaume
Schmoll, Birgit
Volk, Alexander E.
Brooks, William S.
Schofield, Peter R.
Pastor, Pau
Kwok, John B. J.
PLOS ONE, 2013, 8 (02):
[3] C9ORF72 Repeat Expansions are a Genetic Cause of Parkinsonism
Camuzat, Agnes
Lesage, Suzanne
Le Ber, Isabelle
Condroyer, Christel
Broussolle, Emmanuel
Gabelle, Audrey
Thobois, Stephane
Duerr, Alexandra
Brice, Alexis
DEMENTIA AND GERIATRIC COGNITIVE DISORDERS, 2012, 33 : 77 - 78
[4] C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis
Rohrer, Jonathan D.
Isaacs, Adrian M.
Mizlienska, Sarah
Mead, Simon
Lashley, Tammaryn
Wray, Selina
Sidle, Katie
Fratta, Pietro
Orrell, Richard W.
Hardy, John
Holton, Janice
Revesz, Tamas
Rossor, Martin N.
Warren, Jason D.
LANCET NEUROLOGY, 2015, 14 (03): : 291 - 301
[5] Frontotemporal dementia with amyotrophic lateral sclerosis: A clinical comparison of patients with and without repeat expansions in C9orf72
Snowden, Julie S.
Harris, Jennifer
Richardson, Anna
Rollinson, Sara
Thompson, Jennifer C.
Neary, David
Mann, David M. A.
Pickering-Brown, Stuart
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2013, 14 (03) : 172 - 176
[6] Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China
Jiao, Bin
Tang, Beisha
Liu, Xiaoyan
Yan, Xinxiang
Zhou, Lin
Yang, Yi
Wang, Junling
Xia, Kun
Shen, Lu
NEUROBIOLOGY OF AGING, 2014, 35 (04) : 936.e19 - 936.e22
[7] Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Pietro Fratta
Mark Poulter
Tammaryn Lashley
Jonathan D. Rohrer
James M. Polke
Jon Beck
Natalie Ryan
Davina Hensman
Sarah Mizielinska
Adrian J. Waite
Mang-Ching Lai
Tania F. Gendron
Leonard Petrucelli
Elizabeth M. C. Fisher
Tamas Revesz
Jason D. Warren
John Collinge
Adrian M. Isaacs
Simon Mead
Acta Neuropathologica, 2013, 126 : 401 - 409
[8] Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
Fratta, Pietro
Poulter, Mark
Lashley, Tammaryn
Rohrer, Jonathan D.
Polke, James M.
Beck, Jon
Ryan, Natalie
Hensman, Davina
Mizielinska, Sarah
Waite, Adrian J.
Lai, Mang-Ching
Gendron, Tania F.
Petrucelli, Leonard
Fisher, Elizabeth M. C.
Revesz, Tamas
Warren, Jason D.
Collinge, John
Isaacs, Adrian M.
Mead, Simon
ACTA NEUROPATHOLOGICA, 2013, 126 (03) : 401 - 409
[9] C9orf72 repeat expansions are a rare genetic cause of parkinsonism
Lesage, Suzanne
Le Ber, Isabelle
Condroyer, Christel
Broussolle, Emmanuel
Gabelle, Audrey
Thobois, Stephane
Pasquier, Florence
Mondon, Karl
Dion, Patrick A.
Rochefort, Daniel
Rouleau, Guy A.
Duerr, Alexandra
Brice, Alexis
BRAIN, 2013, 136 : 385 - 391
[10] White matter changes in frontotemporal dementia and the C9ORF72 gene expansions
Landin-Romero, R.
Lam, B. Yin Ka
Kumfor, F.
Devenney, E.
Bartley, L.
Halliday, G.
Hodges, J.
Piguet, O.
JOURNAL OF NEUROCHEMISTRY, 2016, 138 : 376 - 377

← 1 2 3 4 5 →