Skip to main content
×
Home
    • Aa
    • Aa
  • Get access
    Check if you have access via personal or institutional login
  • Cited by 6
  • Cited by
    This article has been cited by the following publications. This list is generated based on data provided by CrossRef.

    Alquezar, Carolina Salado, Irene G. de la Encarnación, Ana Pérez, Daniel I. Moreno, Fermín Gil, Carmen de Munain, Adolfo López Martínez, Ana and Martín-Requero, Ángeles 2016. Targeting TDP-43 phosphorylation by Casein Kinase-1δ inhibitors: a novel strategy for the treatment of frontotemporal dementia. Molecular Neurodegeneration, Vol. 11, Issue. 1,


    Alquezar, Carolina Esteras, Noemí Encarnación, Ana de la Moreno, Fermín de Munain, Adolfo López and Martín-Requero, Ángeles 2015. Increasing progranulin levels and blockade of the ERK1/2 pathway: Upstream and downstream strategies for the treatment of progranulin deficient frontotemporal dementia. European Neuropsychopharmacology, Vol. 25, Issue. 3, p. 386.


    Massó, José Félix Martí Zarranz, Juan José Otaegui, David and López de Munain, Adolfo 2015. Neurogenetic Disorders in the Basque Population. Annals of Human Genetics, Vol. 79, Issue. 1, p. 57.


    Senese, Vincenzo Paolo De Lucia, Natascia and Conson, Massimiliano 2015. Cognitive Predictors of Copying and Drawing From Memory of the Rey-Osterrieth Complex Figure in 7- to 10-Year-Old Children. The Clinical Neuropsychologist, Vol. 29, Issue. 1, p. 118.


    Hallam, Bradley J. Jacova, Claudia Hsiung, Ging-Yuek R. Wittenberg, Dana Sengdy, Pheth Bouchard-Kerr, Phoenix Slack, Penny Rademakers, Rosa Baker, Matthew Chow, Tiffany W. Levine, Brian Feldman, Howard H. and Mackenzie, Ian R. 2014. Early Neuropsychological Characteristics of Progranulin Mutation Carriers. Journal of the International Neuropsychological Society, Vol. 20, Issue. 07, p. 694.


    Ferrari, Raffaele Thumma, Avinash and Momeni, Parastoo 2013. eLS.


    ×
  • Journal of the International Neuropsychological Society, Volume 18, Issue 6
  • November 2012, pp. 1086-1090

Neuropsychological Features of Asymptomatic c.709-1G>A Progranulin Mutation Carriers*

  • Myriam Barandiaran (a1) (a2) (a3), Ainara Estanga (a2) (a3) (a4), Fermín Moreno (a1) (a2) (a3) (a4), Begoña Indakoetxea (a1) (a2) (a3) (a4), Ainhoa Alzualde (a2) (a3) (a4), Nekane Balluerka (a5), José Félix Martí Massó (a1) (a2) (a3) (a4) and Adolfo López de Munain (a1) (a2) (a3) (a4)
  • DOI: http://dx.doi.org/10.1017/S1355617712000823
  • Published online: 16 November 2012
Abstract
Abstract

Mutations in the progranulin (PGRN) gene have been identified as a cause of frontotemporal dementia (FTD). However, little is known about the neuropsychological abilities of asymptomatic carriers of these mutations. The aim of the study was to assess cognitive functioning in asymptomatic c.709-1G>A PGRN mutation carriers. We hypothesized that poorer neuropsychological performance could be present before the development of clinically significant FTD symptoms. Thirty-two asymptomatic first-degree relatives of FTD patients carrying the c.709-1G>A mutation served as study participants, including 13 PGRN mutation carriers (A-PGRN+) and 19 non-carriers (PGRN-). A neuropsychological battery was administered. We found that the A-PGRN+ participants obtained significantly poorer scores than PGRN- individuals on tests of attention (Trail-Making Test Part A), mental flexibility (Trail-Making Test Part B), and language (Boston Naming Test). Poorer performance on these tests in asymptomatic PGRN mutation carriers may reflect a prodromal phase preceding the onset of clinically significant symptoms of FTD. (JINS, 2012, 18, 1086–1090)

Copyright
Corresponding author
Correspondence and reprint requests to: Myriam Barandiaran, Department of Neurology, Hospital Donostia, Paseo Dr Begiristain sn, CP 20014, San Sebastian, Gipuzkoa, Spain. E-mail: myriam.barandiaranamillano@osakidetza.net
Footnotes
Hide All

Authors’ Disclosure and Study Funding: This work was supported by Diputación Foral de Gipuzkoa (dossier 76/08) and the Basque Government (SAIOTEK program). Dr. López de Munain is a PhD with funding from the Instituto de Salud Carlos III. Authors report no disclosures.

Footnotes
Linked references
Hide All

This list contains references from the content that can be linked to their source. For a full set of references and notes please see the PDF or HTML where available.

M. Baker , I.R. Mackenzie , S.M. Pickering-Brown , J. Gass , R. Rademarkers , C. Lindholm , M. Hutton (2006). Mutation in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature, 442, 916919.

A. Bateman , H.P. Bennett (2009). The granulin gene family: From cancer to dementia. Bioessays, 31, 12451254.

M. Cruts , I. Gijselinck , J. van der Zee , S. Engelborghs , H. Wils , D. Pirici , B.C. Van (2006). Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature, 442, 920924.

N.J. Fisher , M.C. Tierney , W.G. Snow , J.P. Szalai (1999). Odd/Even short forms of the Boston Naming test: Preliminary geriatric norms. Clinical Neuropsychology, 13(3), 359364.

D.H. Geschwind , J. Robidoux , M. Alarcon , B.L. Miller , K.C. Wilhelmsen , J.L. Cummings , Z.S. Nasreddine (2001). Dementia and neurodevelopmental predisposition: Cognitive dysfunction in presymptomatic subjects precedes dementia by decades in frontotemporal dementia. Annals of Neurology, 50, 741746.

R. Ghidoni , L. Benussi , M. Glionna , M. Franzoni , G. Binetti (2008). Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration. Neurology, 71, 12351239.

A. López de Munain , A. Alzualde , A. Gorostidi , D. Otaegui , J. Ruiz-Martínez , B. Indakoetxea , J.F. Martí Massó (2008). Mutations in progranulin gene: Clinical, pathological, and ribonucleic acid expression findings. Biological Psychiatry, 63, 946952.

F. Moreno , B. Indakoetxea , M. Barandiaran , A. Alzualde , A. Gabilondo , A. Estanga , A. López de Munain (2009). “Frontotemporoparietal” dementia: Clinical phenotype associated with the c.709-1G>A PGRN mutation. Neurology, 73, 13671374.

J. Peña-Casanova , R. Blesa , M. Aguilar , N. Gramunt-Fombuena , B. Gómez-Ansón , R. Oliva , J.M. Sol , for the NEURONORMA Study Team (2009). Spanish multicenter normative studies (NEURONORMA Project): Methods and simple characteristics. Archives of Clinical Neuropsychology, 24, 307319.

R.M. Reitan (1958). Validity of the Trail Making Test as an indicator of organic brain damage. Perceptual and Motor Skills, 8, 271276.

J.D. Rohrer , S.J. Crutch , E.K. Warrington , J.D. Warren (2010). Progranulin-associated primary progressive aphasia: A distinct phenotype? Neuropsychologia, 48, 288297.

J.D. Rhorer , J.D. Warren (2011). Phenotypic signatures of genetic frontotemporal dementia. Current Opinion in Neurology, 24, 542549.

S. Sawrie , R.C. Martin , F.G. Gillian , R.E. Faught , B. Maton , J.W. Hugg , R.I. Kuzniecky (2000). Visual confrontation naming and hippocampal function. A neural network study using quantitative 1 H magnetic resonance spectroscopy. Brain, 123, 770780.

F. Tam , N.W. Churchill , S.C. Strother , S.J. Graham (2011). A new tablet for writing and drawing during functional MRI. Human Brain Mapping, 32, 240248.

T. Torralva , M. Roca , E. Gleichgerrcht , T. Bekinschtein , F. Manes (2009). A neuropsychological battery to detect specific executive and social cognitive impairments in early frontotemporal dementia. Brain, 132, 12991309.

Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Journal of the International Neuropsychological Society
  • ISSN: 1355-6177
  • EISSN: 1469-7661
  • URL: /core/journals/journal-of-the-international-neuropsychological-society
Please enter your name
Please enter a valid email address
Who would you like to send this to? *
×

Keywords: