Student or educator? Sign up with your school email and get 6 months of Pro free.
CoChat
Sign Up
Cited by 352

The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

Le Ber, Isabelle, Camuzat, Agnès, Hannequin, Didier, Pasquier, Florence, Guedj, Eric, Rovelet-Lecrux, Anne, Hahn-Barma, Valérie, van der Zee, Julie, Clot, Fabienne, Bakchine, Serge, Puel, Michèle, Ghanim, Mustapha, Lacomblez, Lucette, Mikol, Jacqueline, Deramecourt, Vincent, Lejeune, Pascal, de la Sayette, Vincent, Belliard, Serge, Vercelletto, Martine, Meyrignac, Christian, Van Broeckhoven, Christine, Lambert, Jean-Charles, Verpillat, Patrice, Campion, Dominique, Habert, Marie-Odile, Dubois, Bruno, Brice, Alexis·2008·Brain
DOI 10.1093/brain/awn012
Open this paper in CoChat — free account

Abstract

Frontotemporal dementia (FTD), characterized by behavioural and language disorders, is a clinically, genetically and pathologically heterogeneous group of diseases. The most recently identified of the four known genes is GRN, associated with 17q-linked FTD with ubiquitin-immunoreactive inclusions. GRN was analysed in 502 probands with frontal variant FTD (fvFTD), FTD with motoneuron disease (FTD-MND), primary progressive aphasia (PPA) and corticobasal degeneration syndrome (CBDS). We studied the clinical, neuropsychological and brain perfusion characteristics of mutation carriers. Eighteen mutations, seven novel were found in 24 families including 32 symptomatic mutation carriers. No copy number variation was found. The phenotypes associated with GRN mutations vary greatly: 20/32 (63%) carriers had fvFTD, the other (12/32, 37%) had clinical diagnoses of PPA, CBDS, Lewy body dementia or Alzheimer's disease. Parkinsonism developed in 13/32 (41%), visual hallucinations in 8/32 (25%) and motor apraxia in 5/21 (24%). Constructional disorders were present in 10/21 (48%). Episodic memory disorders were frequent (16/18, 89%), consistent with hippocampal amnestic syndrome in 5/18 (28%). Hypoperfusion was observed in the hippocampus, parietal lobe and posterior cingulate gyrus, as well as the frontotemporal cortices. The frequency of mutations according to phenotype was 5.7% (20/352) in fvFTD, 17.9% (19/106) in familial forms, 4.4% in PPA (3/68), 3.3% in CBDS (1/30). Hallucinations, apraxia and amnestic syndrome may help differentiate GRN mutation carriers from others FTD patients. Variable phenotypes and neuropsychological profiles, as well as brain perfusion profiles associated with GRN mutations may reflect different patterns of neurodegeneration. Since all the mutations cause a progranulin haploinsufficiency, additional factors probably explain the variable clinical presentation of the disease.

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1093/brain/awn012

Cites

11 of 11 references verified0 citation errors · 0 not checkable

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Show all 11 references

Research works printed but not linked: 50

  1. Ahmed, 2007, Progranulin in frontotemporal lobar degeneration and neuroinflammation, J Neuroinflammation, 4, 7, 10.1186/1742-2094-4-7 · DOI · Paper page
  2. Behrens, 2007, Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation, Alzheimer Dis Assoc Disord, 21, 1, 10.1097/WAD.0b013e31803083f2 · DOI
  3. Benussi, 2006, A novel deletion in progranulin gene is associated with FTDP-17 and CBS, Neurobiol Aging
  4. Boeve, 2003, Corticobasal degeneration and its relationship to progressive supranuclear palsy and frontotemporal dementia, Ann Neurol, 54, S15, 10.1002/ana.10570 · DOI · Paper page
  5. Boeve, 2006, Frontotemporal dementia and parkinsonism associated with the IVS1+1G → A mutation in progranulin: a clinicopathologic study, Brain, 129, 3103, 10.1093/brain/awl268 · DOI
  6. Bronner, 2007, Progranulin mutations in Dutch familial frontotemporal lobar degeneration, Eur J Hum Genet, 15, 369, 10.1038/sj.ejhg.5201772 · DOI
  7. Bruni, 2007, Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation, Neurology, 69, 140, 10.1212/01.wnl.0000265220.64396.b4 · DOI · Paper page
  8. Daniel, 2000, Cellular localization of gene expression for progranulin, J Histochem Cytochem, 48, 999, 10.1177/002215540004800713 · DOI · Paper page
  9. Davion, 2007, Clinicopathologic correlation in PGRN mutations, Neurology, 69, 1113, 10.1212/01.wnl.0000267701.58488.69 · DOI
  10. Deloche, 1996, Picture confrontation oral naming: performance differences between aphasics and normals, Brain Lang, 53, 105, 10.1006/brln.1996.0039 · doi:10.1006/brln.1996.0039
  11. Dubois, 2000, The FAB: a frontal assessment battery at bedside, Neurology, 55, 1621, 10.1212/WNL.55.11.1621 · DOI · Paper page
  12. Folstein, 1975, Mini Mental State: a practical method for grading the cognitive state of patients for the clinician, J Psychiatr Res, 12, 189, 10.1016/0022-3956(75)90026-6 · DOI · Paper page
  13. Foster, 2007, FDG-PET improves accuracy in distinguishing frontotemporal dementia and Alzheimer's disease, Brain, 130, 2616, 10.1093/brain/awm177 · DOI · Paper page
  14. Gass, 2006, Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration, Hum Mol Genet, 15, 2988, 10.1093/hmg/ddl241 · DOI · Paper page
  15. Guedj, 2007, Brain spect perfusion of frontotemporal dementia associated with motor neuron disease, Neurology, 69, 488, 10.1212/01.wnl.0000266638.53185.e7 · doi:10.1212/01.wnl.0000266638.53185.e7
  16. Hayashi, 1999, Cerebral glucose metabolism in unilateral entorhinal cortex-lesioned rats: an animal PET study, Neuroreport, 10, 2113, 10.1097/00001756-199907130-00022 · DOI
  17. Josephs, 2006, Clinicopathological analysis of frontotemporal and corticobasal degenerations and PSP, Neurology, 66, 41, 10.1212/01.wnl.0000191307.69661.c3 · DOI · Paper page
  18. Josephs, 2007, Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutations, J Neuropathol Exp Neurol, 66, 142, 10.1097/nen.0b013e31803020cf · DOI · Paper page
  19. Kertesz, 1999, Clinical and pathological overlap between frontotemporal dementia, primary progressive aphasia and corticobasal degeneration: the Pick complex, Dement Geriatr Cogn Disord, 10, 46, 10.1159/000051212 · DOI
  20. Kertesz, 2005, The evolution and pathology of frontotemporal dementia, Brain, 128, 1996, 10.1093/brain/awh598 · DOI · Paper page
  21. Knibb, 2006, Clinical and pathological characterization of progressive aphasia, Ann Neurol, 59, 156, 10.1002/ana.20700 · DOI · Paper page
  22. Lebert, 1998, Frontotemporal behavioural scale, Alzheimer Dis Assoc Disord, 12, 335, 10.1097/00002093-199812000-00014 · DOI
  23. Le Ber, 2006, Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia, Brain, 129, 3051, 10.1093/brain/awl288 · DOI · Paper page
  24. Le Ber, 2007, Progranulin null mutations in both sporadic and familial frontotemporal dementia, Hum Mutat, 28, 846, 10.1002/humu.20520 · DOI · Paper page
  25. Leverenz, 2007, Novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology, Brain, 130, 1360, 10.1093/brain/awm069 · DOI · Paper page
  26. Mackenzie, 2007, The neuropathology and clinical phenotype of FTD with progranulin mutations, Acta Neuropathol, 114, 49, 10.1007/s00401-007-0223-8 · DOI
  27. Masellis, 2006, Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome, Brain, 129, 3115, 10.1093/brain/awl276 · DOI · Paper page
  28. Mattis, 1988, Dementia Rating Scale.
  29. Meguro, 1999, Neocortical and hippocampal glucose hypometabolism following neurotoxic lesions of the entorhinal and perirhinal cortices in the non-human primate as shown by PET. Implications for Alzheimer's disease, Brain, 122, 1519, 10.1093/brain/122.8.1519 · DOI · Paper page
  30. Mendez, 2003, Speech and language in progressive nonfluent aphasia compared with early Alzheimer's disease, Neurology, 61, 1108, 10.1212/01.WNL.0000090563.97453.90 · DOI
  31. Mesulam, 2001, Primary progressive aphasia, Ann Neurol, 49, 425, 10.1002/ana.91 · DOI · Paper page
  32. Mesulam, 2007, Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families, Arch Neurol, 64, 43, 10.1001/archneur.64.1.43 · DOI · Paper page
  33. Millien, 2002, Brain glucose hypometabolism after perirhinal lesions in baboons: implications for Alzheimer disease and aging, J Cereb Blood Flow Metab, 22, 1248, 10.1097/01.WCB.0000037997.34930.67 · DOI
  34. Mukherjee, 2006, HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin, Ann Neurol, 60, 314, 10.1002/ana.20963 · DOI · Paper page
  35. Neary, 1998, Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria, Neurology, 51, 1546, 10.1212/WNL.51.6.1546 · DOI · Paper page
  36. Pillon, 1994, Are explicit memory disorders of progressive supranuclear palsy related to damage to striatofrontal circuits? Comparison with Alzheimer's, Parkinson's, and Huntington's diseases, Neurology, 44, 1264, 10.1212/WNL.44.7.1264 · DOI
  37. Rademakers, 2007, Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C → T (Arg493X) mutation: an international initiative, Lancet Neurol, 6, 857, 10.1016/S1474-4422(07)70221-1 · DOI · Paper page
  38. Rey, 1959, Test de copie et de reproduction de mémoire de figures géométriques complexes.
  39. Rovelet-Lecrux, 2006, APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy, Nat Genet, 38, 24, 10.1038/ng1718 · DOI · Paper page
  40. Schymick, 2007, Progranulin mutations and ALS or ALS-FTD phenotypes, J Neurol Neurosurg Psychiatry, 78, 754, 10.1136/jnnp.2006.109553 · DOI
  41. Snowden, 2006, Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia, Brain, 129, 3091, 10.1093/brain/awl267 · DOI · Paper page
  42. Spina, 2007, Corticobasal syndrome associated with the A9D Progranulin mutation, J Neuropathol Exp Neurol, 66, 892, 10.1097/nen.0b013e3181567873 · DOI
  43. Spina, 2007, Clinicopathologic features of frontotemporal dementia with progranulin sequence variation, Neurology, 68, 820, 10.1212/01.wnl.0000254460.31273.2d · DOI
  44. Tang-Wai, 2004, Clinical, genetic and neuropathologic characteristics of posterior cortical atrophy, Neurology, 63, 1168, 10.1212/01.WNL.0000140289.18472.15 · DOI · Paper page
  45. The Lund and Manchester groups., 1994, Consensus statement: clinical and neuropathological criteria for fronto-temporal dementia, J Neurol Neurosurg Psychiatry, 4, 416
  46. Thuillard, 1991, Données neuropsychologiques chez le sujet âgé normal, 125
  47. Van Deerlin, 2007, Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations, Arch Neurol, 64, 1148, 10.1001/archneur.64.8.1148 · DOI
  48. Van der Linden, 2004, L’épreuve de rappel libre/rappel indicé de 16 items (RL/RI-16), 25
  49. van der Zee, 2007, Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia, Hum Mutat, 28, 416, 10.1002/humu.9484 · DOI
  50. Whitwell, 2007, Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutations, Arch Neurol, 64, 371, 10.1001/archneur.64.3.371 · DOI

Cited by

See all 352

Metadata

Authors
Le Ber, I., Camuzat, A., Hannequin, D., Pasquier, F., Guedj, E., Rovelet-Lecrux, A., Hahn-Barma, V., van der Zee, J., Clot, F., Bakchine, S., Puel, M., Ghanim, M., Lacomblez, L., Mikol, J., Deramecourt, V., Lejeune, P., de la Sayette, V., Belliard, S., Vercelletto, M., Meyrignac, C., Van Broeckhoven, C., Lambert, J.-C., Verpillat, P., Campion, D., Habert, M.-O., Dubois, B., & Brice, A.
Venue
Brain
Publisher
Oxford University Press (OUP)
Published
2008-02-02
Volume
131
Issue
3
Pages
732-746
ISSN
  • 0006-8950 (ISSN-L)
  • 1460-2156
DOI
10.1093/brain/awn012
OpenAlex
W2152481146
Cited by
352
References
11
FWCI
14.54
Type
journal article
Language
en
Open access
closed

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

How to cite

Cite CoChat for the checks on this page, and the paper for its own findings.

This page
CoChat. (2026). Citation check: Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. https://app.cochat.ai/papers/10.1093/brain/awn012
The paper
Le Ber, I., Camuzat, A., Hannequin, D., Pasquier, F., Guedj, E., Rovelet-Lecrux, A., Hahn-Barma, V., van der Zee, J., Clot, F., Bakchine, S., Puel, M., Ghanim, M., Lacomblez, L., Mikol, J., Deramecourt, V., Lejeune, P., de la Sayette, V., Belliard, S., Vercelletto, M., . . . Brice, A. (2008). Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. Brain. https://doi.org/10.1093/brain/awn012

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.