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

Published on Nov 1, 2012in Journal of The International Neuropsychological Society 2.78
· DOI :10.1017/S1355617712000823
Myriam Barandiaran7
Estimated H-index: 7
,
Ainara Estanga10
Estimated H-index: 10
+ 5 AuthorsAdolfo López de Munain33
Estimated H-index: 33
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)
  • References (20)
  • Citations (11)
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References20
Newest
Published on Jan 1, 2012
Jacqueline Mulder1
Estimated H-index: 1
,
S. Scholte1
Estimated H-index: 1
,
J.M. Bouma5
Estimated H-index: 5
74 Citations
Published on Dec 1, 2011in Current Opinion in Neurology 4.01
Jonathan D. Rohrer48
Estimated H-index: 48
,
Jason D. Warren56
Estimated H-index: 56
Purposeof review Frontotemporal dementia (FTD) is a clinically, pathologically and genetically heterogeneous disorder. Mutations in a number of genes are associated with FTD, although until recently only two [progranulin (GRN) and microtubule-associated protein tau (MAPT)] were known to be major causes of the disease. This review describes recent progress in identifying clinical and neuroanatomical phenotypes associated with autosomal-dominant FTD.Recent findingsAround a third to a half of FTD p...
109 Citations Source Cite
Published on Feb 1, 2011in Human Brain Mapping 4.93
Fred Tam14
Estimated H-index: 14
,
Nathan W. Churchill16
Estimated H-index: 16
(U of T: University of Toronto)
+ 1 AuthorsSimon J. Graham41
Estimated H-index: 41
(U of T: University of Toronto)
The article to which this erratum refers was published in Hum Brain Mapp 2011, DOI: 10.1002/hbm.21013. © 2011 Wiley-Liss, Inc.
46 Citations Source Cite
Published on Jan 1, 2010
Philosophie1
Estimated H-index: 1
28 Citations
Published on Jan 1, 2010in Neuropsychologia 2.89
Jonathan D. Rohrer48
Estimated H-index: 48
(UCL Institute of Neurology),
Sebastian J. Crutch34
Estimated H-index: 34
(UCL Institute of Neurology)
+ 1 AuthorsJason D. Warren56
Estimated H-index: 56
(UCL Institute of Neurology)
The neuropsychological features of the primary progressive aphasia (PPA) syndromes continue to be defined. Here we describe a detailed neuropsychological case study of a patient with a mutation in the progranulin (GRN) gene who presented with progressive word-finding difficulty. Key neuropsychological features in this case included gravely impoverished propositional speech with anomia and prolonged word-finding pauses, impaired speech repetition most marked for sentences, and severely impaired v...
55 Citations Source Cite
Published on Nov 1, 2009in BioEssays 4.42
Andrew Bateman31
Estimated H-index: 31
(MUHC: McGill University Health Centre),
H.P.J. Bennett33
Estimated H-index: 33
(MUHC: McGill University Health Centre)
The growth factor progranulin (PGRN) regulates cell division, survival, and migration. PGRN is an extracellular glycoprotein bearing multiple copies of the cysteine-rich granulin motif. With PGRN family members in plants and slime mold, it represents one of the most ancient of the extracellular regulatory proteins still extant in modern animals. PRGN has multiple biological roles. It contributes to the regulation of early embryogenesis, to adult tissue repair and inflammation. Elevated PGRN leve...
208 Citations Source Cite
Published on Oct 27, 2009in Neurology 8.05
Fermín Moreno4
Estimated H-index: 4
,
Begoña Indakoetxea9
Estimated H-index: 9
+ 8 AuthorsJ.F. Martí-Massó14
Estimated H-index: 14
Background: Mutations in the progranulin gene ( PGRN ) are a major cause of frontotemporal lobar degeneration with tau-negative and ubiquitin-positive neuronal inclusions. Most previous studies aimed at characterizing the clinical and neuropsychological phenotype of PGRN mutation carriers included patients with different PGRN mutations, assuming that the common proposed pathogenetic mechanism of haploinsufficiency will lead to a comparable phenotype. Methods: We studied 21 patients with a single...
22 Citations Source Cite
Published on Jun 1, 2009in Archives of Clinical Neuropsychology 1.59
Jordi Peña-Casanova26
Estimated H-index: 26
,
Rafael Blesa37
Estimated H-index: 37
+ 5 AuthorsJosep M. Sol14
Estimated H-index: 14
This paper describes the methods and sample characteristics of a series of Spanish normative studies (The NEURONORMA project). The primary objective of our research was to collect normative and psychometric information on a sample of people aged over 49 years. The normative information was based on a series of selected, but commonly used, neuropsychological tests covering attention, language, visuo-perceptual abilities, constructional tasks, memory, and executive functions. A sample of 356 commu...
97 Citations Source Cite
Published on May 1, 2009in Brain 10.85
Teresa Torralva30
Estimated H-index: 30
(Favaloro University),
María Roca26
Estimated H-index: 26
(Favaloro University)
+ 2 AuthorsFacundo Manes52
Estimated H-index: 52
(Favaloro University)
Traditional cognitive tests may not be sensitive for the early detection of executive and social cognitive impairments in the behavioural variant of frontotemporal dementia. The aim of this study was to detect specific executive and social cognitive deficits in patients with early behavioural variant frontotemporal dementia using a battery of tests previously shown to be sensitive to frontal lobe dysfunction. Behavioural variant frontotemporal dementia patients and paired controls were assessed ...
175 Citations Source Cite
Published on Oct 14, 2008in Neurology 8.05
Roberta Ghidoni39
Estimated H-index: 39
,
Luisa Benussi37
Estimated H-index: 37
+ 2 AuthorsGiuliano Binetti55
Estimated H-index: 55
Background: Mutations in the progranulin gene ( PGRN ) were identified as the causal mechanism underlying frontotemporal lobar degeneration (FTLD). Most of these mutations are predicted to create null alleles leading to a 50% loss of progranulin transcript. Methods: Patients underwent clinical and neurologic examination at the Memory Clinic of the IRCCS S. Giovanni di Dio-Fatebenefratelli, Brescia, Italy. We enrolled affected (n = 6) and unaffected at risk members (n = 73) of families carrying t...
210 Citations Source Cite
Cited By11
Newest
Published on May 22, 2019in Journal of Neurology 3.78
Caroline V. Greaves , Jonathan D. Rohrer48
Estimated H-index: 48
Source Cite
Published on May 1, 2019in Alzheimers & Dementia 12.76
Adam M. Staffaroni4
Estimated H-index: 4
(UCSF: University of California, San Francisco),
Lynn Bajorek (UCSF: University of California, San Francisco)+ 89 AuthorsReilly Dever (UCSF: University of California, San Francisco)
Abstract Introduction Identifying clinical measures that track disease in the earliest stages of frontotemporal lobar degeneration (FTLD) is important for clinical trials. Familial FTLD provides a unique paradigm to study early FTLD. Executive dysfunction is a clinically relevant hallmark of FTLD and may be a marker of disease progression. Methods Ninety-three mutation carriers with no symptoms or minimal/questionable symptoms ( MAPT , n = 31; GRN , n = 28; C9orf72 , n = 34; Clinical Dementia Ra...
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Myriam Barandiaran7
Estimated H-index: 7
,
Fermin Moreno13
Estimated H-index: 13
+ 5 AuthorsAdolfo López de Munain33
Estimated H-index: 33
Source Cite
Published on Jun 1, 2018in Journal of Neurology 3.78
Lize C. Jiskoot11
Estimated H-index: 11
(EUR: Erasmus University Rotterdam),
Jessica L. Panman3
Estimated H-index: 3
(EUR: Erasmus University Rotterdam)
+ 10 AuthorsRick van Minkelen12
Estimated H-index: 12
(EUR: Erasmus University Rotterdam)
Introduction We performed 4-year follow-up neuropsychological assessment to investigate cognitive decline and the prognostic abilities from presymptomatic to symptomatic familial frontotemporal dementia (FTD).
5 Citations Source Cite
Published on Dec 1, 2016in Molecular Neurodegeneration 6.43
Carolina Alquézar7
Estimated H-index: 7
(CSIC: Spanish National Research Council),
Irene G. Salado4
Estimated H-index: 4
(CSIC: Spanish National Research Council)
+ 6 AuthorsÁngeles Martín-Requero14
Estimated H-index: 14
(CSIC: Spanish National Research Council)
Background Mutations in the progranulin gene (GRN) are the most common cause of frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP). TDP-43 pathology is characterized by the hyperphosphorylation of the protein at Serine 409/410 residues. Casein kinase-1δ (CK-1δ) was reported to phosphorylate TDP-43 directly. Previous works from our laboratory described the presence of CDK6/pRb-dependent cell cycle alterations, and cytosolic accumulation of TDP-43 protein in lymphoblast from FTLD-...
7 Citations Source Cite
Published on Mar 1, 2015in European Neuropsychopharmacology 4.13
Carolina Alquézar4
Estimated H-index: 4
(CSIC: Spanish National Research Council),
Noemí Esteras11
Estimated H-index: 11
(CSIC: Spanish National Research Council)
+ 3 AuthorsÁngeles Martín-Requero14
Estimated H-index: 14
(CSIC: Spanish National Research Council)
Frontotemporal lobar degeneration (FTLD) is a neurodegenerative disorder marked by mild-life onset and progressive changes in behavior, social cognition, and language. Loss-of-function progranulin gene (GRN) mutations are the major cause of FTLD with TDP-43 protein inclusions (FTLD-TDP). Disease-modifying treatments for FTLD-TDP are not available yet. Mounting evidence indicates that cell cycle dysfunction may play a pathogenic role in neurodegenerative disorders including FTLD. Since cell cycle...
9 Citations Source Cite
Published on Jan 2, 2015in Clinical Neuropsychologist 1.81
Vincenzo Paolo Senese11
Estimated H-index: 11
(Seconda Università degli Studi di Napoli),
Natascia De Lucia6
Estimated H-index: 6
(Seconda Università degli Studi di Napoli),
Massimiliano Conson20
Estimated H-index: 20
(Seconda Università degli Studi di Napoli)
Cognitive models of drawing are mainly based on assessment of copying performance of adults, whereas only a few studies have verified these models in young children. Moreover, developmental investigations have only rarely performed a systematic examination of the contribution of perceptual and representational visuo-spatial processes to copying and drawing from memory. In this study we investigated the role of visual perception and mental representation in both copying and drawing from memory sk...
6 Citations Source Cite
Published on Jan 1, 2015in Annals of Human Genetics 1.53
José Félix Martí Massó13
Estimated H-index: 13
,
Juan J. Zarranz23
Estimated H-index: 23
+ 1 AuthorsAdolfo López de Munain33
Estimated H-index: 33
uzcoa 6 BioCruces Institute, Baracaldo, Vizcaya 7 JAKIUNDE, Academia de las Ciencias, de las Artes y de las Letras Summary In the molecular era, the study of neurogenetic disorders in relict populations provides an opportunity to discover new genes by linkage studies and to establish clearer genotype-phenotype correlations in large cohorts of individuals carrying the same mutation. The Basque people are one of the most ancient populations living in Europe and represent an excellent resource for ...
3 Citations Source Cite
Bradley J. Hallam5
Estimated H-index: 5
(UBC: University of British Columbia),
Claudia Jacova21
Estimated H-index: 21
(UBC: University of British Columbia)
+ 10 AuthorsTiffany W. Chow30
Estimated H-index: 30
(U of T: University of Toronto)
6 Citations Source Cite
Published on May 15, 2013
Raffaele Ferrari3
Estimated H-index: 3
(TTU: Texas Tech University),
Avinash Thumma1
Estimated H-index: 1
(TTU: Texas Tech University),
Parastoo Momeni22
Estimated H-index: 22
(TTU: Texas Tech University)
Frontotemporal dementia (FTD) is a nonAlzheimer's form of dementia. Onset age lies in the mid-to-late 50s. FTD affects the frontal and/or the temporal lobes and is clinically divided into two main categories: behavioural variant (bvFTD) and language variant. FTD is characterised by heterogeneous pathology defined by pathogenic protein inclusions: microtubule-associated protein tau (MAPT), ubiquitin/transactive responses (TAR) deoxyribonucleic acid (DNA)-binding protein 43 (TDP)-43, fused in sarc...
7 Citations Source Cite