PRKAR1B mutations are a rare cause of FUS negative neuronal intermediate filament inclusion disease

被引：7

作者：

Pottier, Cyril ^{[1
]}

Baker, Matt ^{[1
]}

Dickson, Dennis W. ^{[1
]}

Rademakers, Rosa ^{[1
]}

机构：

[1] Mayo Clin, Dept Neurosci, Jacksonville, FL 32224 USA

来源：

BRAIN | 2015年 / 138卷

关键词：

NEUROFILAMENT INCLUSIONS; DEMENTIA;

D O I：

10.1093/brain/awu332

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：2

共 8 条

[1] Frontotemporal and motor neurone degeneration with neurofilament inclusion bodies: additional evidence for overlap between FTD and ALS [J].

Bigio, EH ;

Lipton, AM ;

White, CL ;

Dickson, DW ;

Hirano, A .

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2003, 29 (03) :239-253

[2]

Cairns NJ, 2004, NEUROLOGY, V63, P1376

[3] α-internexin is present in the pathological inclusions of neuronal intermediate filament inclusion disease [J].

Cairns, NJ ;

Zhukareva, V ;

Uryu, K ;

Zhang, B ;

Bigio, E ;

Mackenzie, IRA ;

Gearing, M ;

Duyckaerts, C ;

Yokoo, H ;

Nakazato, Y ;

Jaros, E ;

Perry, RH ;

Lee, VMY ;

Trojanowski, JQ .

AMERICAN JOURNAL OF PATHOLOGY, 2004, 164 (06) :2153-2161

[4] Patients with a novel neurofilamentopathy: dementia with neurofilament inclusions [J].

Cairns, NJ ;

Perry, RH ;

Jaros, E ;

Burn, D ;

McKeith, IG ;

Lowe, JS ;

Holton, J ;

Rossor, MN ;

Skullerud, K ;

Duyckaerts, C ;

Cruz-Sanchez, FF ;

Lantos, PL .

NEUROSCIENCE LETTERS, 2003, 341 (03) :177-180

[5] Clustering of neuronal inclusions in "dementia with neurofilament inclusions" [J].

Cairns, NJ ;

Armstrong, RA .

ACTA NEUROPATHOLOGICA, 2003, 106 (02) :125-128

[6] Neurofilament inclusion body disease: a new proteinopathy? [J].

Josephs, KA ;

Holton, JL ;

Rossor, MN ;

Braendgaard, H ;

Ozawa, T ;

Fox, NC ;

Petersen, RC ;

Pearl, GS ;

Ganguly, M ;

Rosa, P ;

Laursen, H ;

Parisi, JE ;

Waldemar, G ;

Quinn, NP ;

Dickson, DW ;

Revesz, T .

BRAIN, 2003, 126 :2291-2303

[7] Abundant FUS-immunoreactive pathology in neuronal intermediate filament inclusion disease [J].

Neumann, Manuela ;

Roeber, Sigrun ;

Kretzschmar, Hans A. ;

Rademakers, Rosa ;

Baker, Matt ;

Mackenzie, Ian R. A. .

ACTA NEUROPATHOLOGICA, 2009, 118 (05) :605-616

[8] PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology [J].

Wong, Tsz Hang ;

Chiu, Wang Zheng ;

Breedveld, Guido J. ;

Li, Ka Wan ;

Verkerk, Annemieke J. M. H. ;

Hondius, David ;

Hukema, Renate K. ;

Seelaar, Harro ;

Frick, Petra ;

Severijnen, Lies-Anne ;

Lammers, Gert-Jan ;

Lebbink, Joyce H. G. ;

van Duinen, Sjoerd G. ;

Kamphorst, Wouter ;

Rozemuller, Annemieke J. ;

Bakker, E. Bert ;

Neumann, Manuela ;

Willemsen, Rob ;

Bonifati, Vincenzo ;

Smit, August B. ;

van Swieten, John .

BRAIN, 2014, 137 :1361-1373

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