Pattern of structural and functional brain abnormalities in asymptomatic granulin mutation carriers

To investigate the patterns of brain atrophy, white matter (WM) tract changes, and functional connectivity (FC) abnormalities in asymptomatic granulin (GRN) mutation carriers.

[1]  A M Dale,et al.  Measuring the thickness of the human cerebral cortex from magnetic resonance images. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[2]  C. Spielberger,et al.  Manual for the State-Trait Anxiety Inventory , 1970 .

[3]  Jason D. Warren,et al.  Disintegrating Brain Networks: from Syndromes to Molecular Nexopathies , 2012, Neuron.

[4]  M. Catani,et al.  A diffusion tensor imaging tractography atlas for virtual in vivo dissections , 2008, Cortex.

[5]  E. Kaplan,et al.  The Boston naming test , 2001 .

[6]  Wang Zhan,et al.  Patterns of age-related water diffusion changes in human brain by concordance and discordance analysis , 2010, Neurobiology of Aging.

[7]  Terrence J. Sejnowski,et al.  An Information-Maximization Approach to Blind Separation and Blind Deconvolution , 1995, Neural Computation.

[8]  V D Calhoun,et al.  Spatial and temporal independent component analysis of functional MRI data containing a pair of task‐related waveforms , 2001, Human brain mapping.

[9]  C. van Broeckhoven,et al.  The genetics and neuropathology of frontotemporal lobar degeneration , 2012, Acta Neuropathologica.

[10]  G. Binetti,et al.  Losing protein in the brain: The case of progranulin , 2012, Brain Research.

[11]  Eric Guedj,et al.  Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study. , 2008, Brain : a journal of neurology.

[12]  C. Caltagirone,et al.  Granulin mutation drives brain damage and reorganization from preclinical to symptomatic FTLD , 2012, Neurobiology of Aging.

[13]  M. Haine,et al.  Van Damme A. , 1986 .

[14]  G. Binetti,et al.  Progranulin Leu271LeufsX10 is one of the most common FTLD and CBS associated mutations worldwide , 2009, Neurobiology of Disease.

[15]  K. Sleegers,et al.  Serum biomarker for progranulin‐associated frontotemporal lobar degeneration , 2009, Annals of neurology.

[16]  C. Jack,et al.  Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics , 2012, Brain : a journal of neurology.

[17]  P. Caffarra,et al.  Rey-Osterrieth complex figure: normative values in an Italian population sample , 2002, Neurological Sciences.

[18]  Massimo Filippi,et al.  Assessment of white matter tract damage in mild cognitive impairment and Alzheimer's disease , 2010, Human brain mapping.

[19]  L. Agnati,et al.  Optimal Plasma Progranulin Cutoff Value for Predicting Null Progranulin Mutations in Neurodegenerative Diseases: A Multicenter Italian Study , 2011, Neurodegenerative Diseases.

[20]  Patrizia Rizzu,et al.  Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia , 2013, Neurology.

[21]  D Perani,et al.  Brain magnetic resonance imaging structural changes in a pedigree of asymptomatic progranulin mutation carriers. , 2008, Rejuvenation research.

[22]  G. Binetti,et al.  Estimating the age of the most common Italian GRN mutation: walking back to Canossa times. , 2012, Journal of Alzheimer's disease : JAD.

[23]  C R Jack,et al.  Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN , 2009, Neurology.

[24]  J. Rohrer,et al.  Phenotypic signatures of genetic frontotemporal dementia. , 2011, Current opinion in neurology.

[25]  Anders M. Dale,et al.  Cortical Surface-Based Analysis I. Segmentation and Surface Reconstruction , 1999, NeuroImage.

[26]  J. Talairach,et al.  Co-Planar Stereotaxic Atlas of the Human Brain: 3-Dimensional Proportional System: An Approach to Cerebral Imaging , 1988 .

[27]  Sébastien Ourselin,et al.  Distinct profiles of brain atrophy in frontotemporal lobar degeneration caused by progranulin and tau mutations☆ , 2010, NeuroImage.

[28]  M. Bozzali,et al.  Structural brain signature of FTLD driven by Granulin mutation. , 2012, Journal of Alzheimer's disease : JAD.

[29]  Jean-Luc Anton,et al.  Region of interest analysis using an SPM toolbox , 2010 .

[30]  G. Frisoni,et al.  Functional network disruption in the degenerative dementias , 2011, The Lancet Neurology.

[31]  William T. Hu,et al.  Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. , 2011, Archives of neurology.

[32]  Nick C Fox,et al.  Clinical and biomarker changes in dominantly inherited Alzheimer's disease. , 2012, The New England journal of medicine.

[33]  Daniel Rueckert,et al.  Tract-based spatial statistics: Voxelwise analysis of multi-subject diffusion data , 2006, NeuroImage.

[34]  A. Rovelet-Lecrux,et al.  Recent insights into the molecular genetics of dementia , 2009, Trends in Neurosciences.

[35]  S. Folstein,et al.  "Mini-mental state". A practical method for grading the cognitive state of patients for the clinician. , 1975, Journal of psychiatric research.

[36]  A. Beck,et al.  An inventory for measuring depression. , 1961, Archives of general psychiatry.

[37]  Marcella Laiacona,et al.  Tre test clinici di ricerca e produzione lessicale , 1986 .

[38]  Nick C Fox,et al.  Tracking atrophy progression in familial Alzheimer's disease: a serial MRI study , 2006, The Lancet Neurology.

[39]  G. Binetti,et al.  Progranulin mutations are a common cause of FTLD in Northern Italy. , 2010, Alzheimer Disease and Associated Disorders.

[40]  J. Hodges,et al.  Staging disease severity in pathologically confirmed cases of frontotemporal dementia , 2003, Neurology.

[41]  D. Perani,et al.  A novel progranulin mutation causing frontotemporal lobar degeneration with heterogeneous phenotypic expression. , 2011, Journal of Alzheimer's disease : JAD.

[42]  G. Binetti,et al.  Prevalence of pathogenic mutations in an Italian clinical series of patients with familial dementia. , 2004, Current Alzheimer research.

[43]  Guy B. Williams,et al.  Absolute diffusivities define the landscape of white matter degeneration in Alzheimer's disease. , 2010, Brain : a journal of neurology.

[44]  Norbert Schuff,et al.  White matter damage in frontotemporal dementia and Alzheimer's disease measured by diffusion MRI , 2009, Brain : a journal of neurology.

[45]  R. Petersen,et al.  Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members , 2009, Brain : a journal of neurology.

[46]  G. Binetti,et al.  Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration , 2008, Neurology.

[47]  A. Dale,et al.  Cortical Surface-Based Analysis II: Inflation, Flattening, and a Surface-Based Coordinate System , 1999, NeuroImage.

[48]  I. Appollonio,et al.  Higher than expected progranulin mutation rate in a case series of Italian FTLD patients. , 2009, Alzheimer disease and associated disorders.

[49]  E. Capitani,et al.  Trail making test: normative values from 287 normal adult controls , 1996, The Italian Journal of Neurological Sciences.