Literature DB >> 24479957

Progressive supranuclear palsy in a family with TDP-43 pathology.

A Kertesz1, E Finger, J Murrell, H Chertkow, L C Ang, M Baker, T Ravenscroft, R Rademakers, D G Munoz.   

Abstract

UNLABELLED: A member of a family with an autosomal dominant pattern of frontotemporal dementia (FTD) with a TDP-43 pathological substrate in other members and no mutations in FTD-associated genes developed behavioral variant FTD followed by Progressive Supranuclear Palsy. Autopsy revealed a pure tauopathy of PSP pattern.
CONCLUSIONS: The findings raise the possibility of shared pathogenic pathways and a proximal genetic abnormality between PSP and FTLD-43.

Entities:  

Keywords:  Progressive Supranuclear Palsy; frontotemporal dementia; genetics

Mesh：

Substances：

Year:  2014        PMID： 24479957      PMCID： PMC4116482          DOI： 10.1080/13554794.2013.878729

Source DB:  PubMed          Journal:  Neurocase        ISSN： 1355-4794            Impact factor:   0.881


  20 in total

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Journal:  Am J Hum Genet       Date:  2003-12-19       Impact factor: 11.025

2.  Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

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Journal:  Neuron       Date:  2011-09-21       Impact factor: 17.173

3.  TDP-43 is deposited in the Guam parkinsonism-dementia complex brains.

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4.  Pathological TDP-43 in parkinsonism-dementia complex and amyotrophic lateral sclerosis of Guam.

Authors:  Felix Geser; Matthew J Winton; Linda K Kwong; Yan Xu; Sharon X Xie; Lionel M Igaz; Ralph M Garruto; Daniel P Perl; Douglas Galasko; Virginia M-Y Lee; John Q Trojanowski
Journal:  Acta Neuropathol       Date:  2007-08-23       Impact factor: 17.088

5.  Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.

Authors:  Ging-Yuek R Hsiung; Mariely DeJesus-Hernandez; Howard H Feldman; Pheth Sengdy; Phoenix Bouchard-Kerr; Emily Dwosh; Rachel Butler; Bonnie Leung; Alice Fok; Nicola J Rutherford; Matt Baker; Rosa Rademakers; Ian R A Mackenzie
Journal:  Brain       Date:  2012-02-17       Impact factor: 13.501

6.  A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology.

Authors:  J B Leverenz; C E Yu; T J Montine; E Steinbart; L M Bekris; C Zabetian; L K Kwong; V M-Y Lee; G D Schellenberg; T D Bird
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7.  Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions.

Authors:  A Kertesz; T Kawarai; E Rogaeva; P St George-Hyslop; P Poorkaj; T D Bird; D G Munoz
Journal:  Neurology       Date:  2000-02-22       Impact factor: 9.910

8.  Corticobasal syndrome associated with the A9D Progranulin mutation.

Authors:  Salvatore Spina; Jill R Murrell; Edward D Huey; Eric M Wassermann; Pietro Pietrini; Jordan Grafman; Bernardino Ghetti
Journal:  J Neuropathol Exp Neurol       Date:  2007-10       Impact factor: 3.685

9.  TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease.

Authors:  Catalina Amador-Ortiz; Wen-Lang Lin; Zeshan Ahmed; David Personett; Peter Davies; Ranjan Duara; Neill R Graff-Radford; Michael L Hutton; Dennis W Dickson
Journal:  Ann Neurol       Date:  2007-05       Impact factor: 10.422

10.  Accumulation of phosphorylated TDP-43 in brains of patients with argyrophilic grain disease.

Authors:  Hiroshige Fujishiro; Hirotake Uchikado; Tetsuaki Arai; Masato Hasegawa; Haruhiko Akiyama; Osamu Yokota; Kuniaki Tsuchiya; Takashi Togo; Eizo Iseki; Yoshio Hirayasu
Journal:  Acta Neuropathol       Date:  2008-11-28       Impact factor: 17.088
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Authors:  Peter T Nelson; Erin L Abner; Ela Patel; Sonya Anderson; Donna M Wilcock; Richard J Kryscio; Linda J Van Eldik; Gregory A Jicha; Zsombor Gal; Ruth S Nelson; Bela G Nelson; Jozsef Gal; Md Tofial Azam; David W Fardo; Matthew D Cykowski
Journal:  J Neuropathol Exp Neurol       Date:  2018-01-01       Impact factor: 3.685

Review 2.  The neurogenetics of atypical parkinsonian disorders.

Authors:  Brent L Fogel; Mary C Clark; Daniel H Geschwind
Journal:  Semin Neurol       Date:  2014-06-25       Impact factor: 3.420

Review 3.  Progressive supranuclear palsy (PSP): Richardson syndrome and other PSP variants.

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Review 4.  Evolving concepts in progressive supranuclear palsy and other 4-repeat tauopathies.

Authors:  Maria Stamelou; Gesine Respondek; Nikolaos Giagkou; Jennifer L Whitwell; Gabor G Kovacs; Günter U Höglinger
Journal:  Nat Rev Neurol       Date:  2021-08-23       Impact factor: 42.937

5.  Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report.

Authors:  Peter T Nelson; Dennis W Dickson; John Q Trojanowski; Clifford R Jack; Patricia A Boyle; Konstantinos Arfanakis; Rosa Rademakers; Irina Alafuzoff; Johannes Attems; Carol Brayne; Ian T S Coyle-Gilchrist; Helena C Chui; David W Fardo; Margaret E Flanagan; Glenda Halliday; Suvi R K Hokkanen; Sally Hunter; Gregory A Jicha; Yuriko Katsumata; Claudia H Kawas; C Dirk Keene; Gabor G Kovacs; Walter A Kukull; Allan I Levey; Nazanin Makkinejad; Thomas J Montine; Shigeo Murayama; Melissa E Murray; Sukriti Nag; Robert A Rissman; William W Seeley; Reisa A Sperling; Charles L White; Lei Yu; Julie A Schneider
Journal:  Brain       Date:  2019-06-01       Impact factor: 15.255
  5 in total

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