Literature DB >> 17417739

Late-onset frontotemporal dementia associated with a novel PGRN mutation.

A Lladó1, R Sánchez-Valle, R Reñé, M Ezquerra, M J Rey, E Tolosa, I Ferrer, J L Molinuevo.   

Abstract

We describe a new mutation in the PGRN gene (A303AfsX57) associated with late-onset frontotemporal dementia and with "cat's eye" shaped intranuclear and cytoplasmatic ubiquitin immunoreactive inclusions in the neuropathological exam. The A303AfsX57 mutation is consistent with a nucleotide deletion in exon 8 (c908delC). This deletion causes a frameshift at codon 303 that introduces a premature termination codon (A303AfsX57).

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Year:  2007        PMID： 17417739     DOI： 10.1007/s00702-007-0716-6

Source DB:  PubMed          Journal:  J Neural Transm (Vienna)        ISSN： 0300-9564            Impact factor:   3.575


  9 in total

Review 1.  Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria.

Authors:  D Neary; J S Snowden; L Gustafson; U Passant; D Stuss; S Black; M Freedman; A Kertesz; P H Robert; M Albert; K Boone; B L Miller; J Cummings; D F Benson
Journal:  Neurology       Date:  1998-12       Impact factor: 9.910

2.  Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation.

Authors:  Jing Shi; Catherine L Shaw; Daniel Du Plessis; Anna M T Richardson; Kathryn L Bailey; Camille Julien; Cheryl Stopford; Jennifer Thompson; Anoop Varma; David Craufurd; Jinzhou Tian; Stuart Pickering-Brown; David Neary; Julie S Snowden; David M A Mann
Journal:  Acta Neuropathol       Date:  2005-10-13       Impact factor: 17.088

3.  Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21.

Authors:  Marc Cruts; Ilse Gijselinck; Julie van der Zee; Sebastiaan Engelborghs; Hans Wils; Daniel Pirici; Rosa Rademakers; Rik Vandenberghe; Bart Dermaut; Jean-Jacques Martin; Cornelia van Duijn; Karin Peeters; Raf Sciot; Patrick Santens; Tim De Pooter; Maria Mattheijssens; Marleen Van den Broeck; Ivy Cuijt; Krist'l Vennekens; Peter P De Deyn; Samir Kumar-Singh; Christine Van Broeckhoven
Journal:  Nature       Date:  2006-07-16       Impact factor: 49.962

4.  Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.

Authors:  Sonia M Rosso; Laura Donker Kaat; Timo Baks; Marijke Joosse; Inge de Koning; Yolande Pijnenburg; Daniëlle de Jong; Dennis Dooijes; Wouter Kamphorst; Rivka Ravid; Martinus F Niermeijer; Frans Verheij; H P Kremer; Philip Scheltens; Cornelia M van Duijn; Peter Heutink; John C van Swieten
Journal:  Brain       Date:  2003-07-22       Impact factor: 13.501

5.  Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia.

Authors:  J S Snowden; S M Pickering-Brown; I R Mackenzie; A M T Richardson; A Varma; D Neary; D M A Mann
Journal:  Brain       Date:  2006-09-26       Impact factor: 13.501

6.  Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

Authors:  Jennifer Gass; Ashley Cannon; Ian R Mackenzie; Bradley Boeve; Matt Baker; Jennifer Adamson; Richard Crook; Stacey Melquist; Karen Kuntz; Ron Petersen; Keith Josephs; Stuart M Pickering-Brown; Neill Graff-Radford; Ryan Uitti; Dennis Dickson; Zbigniew Wszolek; John Gonzalez; Thomas G Beach; Eileen Bigio; Nancy Johnson; Sandra Weintraub; Marsel Mesulam; Charles L White; Bryan Woodruff; Richard Caselli; Ging-Yuek Hsiung; Howard Feldman; Dave Knopman; Mike Hutton; Rosa Rademakers
Journal:  Hum Mol Genet       Date:  2006-09-01       Impact factor: 6.150

7.  Characteristics of frontotemporal dementia patients with a Progranulin mutation.

Authors:  Edward D Huey; Jordan Grafman; Eric M Wassermann; Pietro Pietrini; Michael C Tierney; Bernardino Ghetti; Salvatore Spina; Matt Baker; Mike Hutton; Joshua W Elder; Stephen L Berger; Kyle A Heflin; John Hardy; Parastoo Momeni
Journal:  Ann Neurol       Date:  2006-09       Impact factor: 10.422

8.  Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.

Authors:  Matt Baker; Ian R Mackenzie; Stuart M Pickering-Brown; Jennifer Gass; Rosa Rademakers; Caroline Lindholm; Julie Snowden; Jennifer Adamson; A Dessa Sadovnick; Sara Rollinson; Ashley Cannon; Emily Dwosh; David Neary; Stacey Melquist; Anna Richardson; Dennis Dickson; Zdenek Berger; Jason Eriksen; Todd Robinson; Cynthia Zehr; Chad A Dickey; Richard Crook; Eileen McGowan; David Mann; Bradley Boeve; Howard Feldman; Mike Hutton
Journal:  Nature       Date:  2006-07-16       Impact factor: 49.962

9.  Mutations in progranulin explain atypical phenotypes with variants in MAPT.

Authors:  Stuart M Pickering-Brown; Matt Baker; Jenny Gass; Bradley F Boeve; Clement T Loy; William S Brooks; Ian R A Mackenzie; Ralph N Martins; John B J Kwok; Glenda M Halliday; Jillian Kril; Peter R Schofield; David M A Mann; Mike Hutton
Journal:  Brain       Date:  2006-11       Impact factor: 13.501
  9 in total
  4 in total

Review 1.  Update on recent molecular and genetic advances in frontotemporal lobar degeneration.

Authors:  Eileen H Bigio
Journal:  J Neuropathol Exp Neurol       Date:  2008-07       Impact factor: 3.685

2.  Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).

Authors:  Tomasz Gabryelewicz; Mario Masellis; Mariusz Berdynski; Juan M Bilbao; Ekaterina Rogaeva; Peter St George-Hyslop; Anna Barczak; Krzysztof Czyzewski; Maria Barcikowska; Zbigniew Wszolek; Sandra E Black; Cezary Zekanowski
Journal:  J Alzheimers Dis       Date:  2010       Impact factor: 4.472

Review 3.  The Rationale Behind the New Alzheimer's Disease Conceptualization: Lessons Learned During the Last Decades.

Authors:  José Luis Molinuevo; Carolina Minguillon; Lorena Rami; Juan Domingo Gispert
Journal:  J Alzheimers Dis       Date:  2018       Impact factor: 4.472

4.  TDP-43 Vasculopathy in the Spinal Cord in Sporadic Amyotrophic Lateral Sclerosis (sALS) and Frontal Cortex in sALS/FTLD-TDP.

Authors:  Isidro Ferrer; Pol Andrés-Benito; Margarita Carmona; Abdelilah Assialioui; Mónica Povedano
Journal:  J Neuropathol Exp Neurol       Date:  2021-02-22       Impact factor: 3.685
  4 in total

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