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Genomes and Genes | Rosa RademakersSummaryAffiliation: Mayo Clinic Country: USA Publications
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Publications
Progranulin axis and recent developments in frontotemporal lobar degenerationAlexandra M Nicholson
Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Alzheimers Res Ther 4:4. 2012..The present review aims to underscore the necessity of further elucidation of PGRN biology in FTLD-related neurodegeneration...
Motor neuron disease in 2012: Novel causal genes and disease modifiersRosa Rademakers
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Nat Rev Neurol 9:63-4. 2013..Novel ALS-linked genes and genetic modifiers were identified through screening in animal models and patients...- Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control studyLisa F Potts
Department of Anatomical Sciences and Neurobiology, University of Louisville, KY, USA
BMC Med Genet 13:16. 2012.... - Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroidsRosa Rademakers
Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida, USA
Nat Genet 44:200-5. 2012..As CSF1R is a crucial mediator of microglial proliferation and differentiation in the brain, our findings suggest an important role for microglial dysfunction in HDLS pathogenesis... 
The genetics of frontotemporal lobar degenerationRosa Rademakers
Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Curr Neurol Neurosci Rep 7:434-42. 2007..In this report, we outline the progress made in the study of the genetic etiologies and neuropathologic substrates in FTLD...- Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementiaRosa Rademakers
Department of Neuroscience, Mayo Clinic, Jacksonville, FL FL 32224, USA
Hum Mol Genet 17:3631-42. 2008..Translational regulation by miRNAs may represent a common mechanism underlying complex neurodegenerative disorders... - Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiativeRosa Rademakers
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
Lancet Neurol 6:857-68. 2007..The most common mutation in GRN is Arg493X. We aimed to establish the contribution of this mutation to FTLD and related disorders... - Recent insights into the molecular genetics of dementiaRosa Rademakers
Mayo Clinic, Department of Neuroscience, Jacksonville, FL 32224, USA
Trends Neurosci 32:451-61. 2009..These exciting findings provide novel insights into the disease mechanisms underlying dementia and hold promise for the development of potential treatments... - TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriersN Finch
Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Neurology 76:467-74. 2011.... - Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadicsJennifer L Whitwell
Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
Brain 135:794-806. 2012..Our analysis suggested that imaging has the potential to be useful to help differentiate C9ORF72 from these other groups at the single-subject level... - Prominent phenotypic variability associated with mutations in ProgranulinBrendan J Kelley
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Neurobiol Aging 30:739-51. 2009..Some kindreds with PGRN mutations exhibited lateralized topography of degeneration across all affected individuals... - Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulinBrendan J Kelley
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Arch Neurol 67:171-7. 2010..To characterize a kindred with a familial neurodegenerative disorder associated with a mutation in progranulin (PGRN), with emphasis on the unique clinical features in this kindred... - Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72Bradley F Boeve
Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905, USA
Brain 135:765-83. 2012..While variability exists, most cases with this mutation have a characteristic spectrum of demographic, clinical, neuropsychological, neuroimaging and especially neuropathological findings... - Progranulin gene mutation with an unusual clinical and neuropathologic presentationChristian Wider
Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
Mov Disord 23:1168-73. 2008..This study further expands the clinical and pathological spectrum of PGRN mutations, and suggests the diagnosis could be missed in some individuals with atypical presentations... - Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72Melissa E Murray
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
Acta Neuropathol 122:673-90. 2011..Further studies are needed to address the molecular mechanism of clinical and pathological heterogeneity of c9FTD/ALS due to mutations in C9ORF72... - Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALSMariely DeJesus-Hernandez
Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA
Neuron 72:245-56. 2011..Our findings indicate that repeat expansion in C9ORF72 is a major cause of both FTD and ALS... - Characterization of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72Rodolfo Savica
Department of Neurology, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
Arch Neurol 69:1164-9. 2012..We report the clinical, neuropsychologic, and neuroimaging findings of a family with the C9ORF72 mutation and clinical diagnoses bridging the FTD, parkinsonism, and ALS spectrum... - Altered microRNA expression in frontotemporal lobar degeneration with TDP-43 pathology caused by progranulin mutationsJannet Kocerha
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
BMC Genomics 12:527. 2011..Here we examine the role of miRNAs in FTLD patients with TAR DNA-binding protein 43 pathology (FTLD-TDP) caused by genetic mutations in the progranulin (PGRN) gene... - Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family membersNiCole Finch
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Brain 132:583-91. 2009..We propose that plasma GRN levels could be used as a reliable and inexpensive tool to identify all GRN mutation carriers in early-onset dementia populations and asymptomatic at-risk individuals... - Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementiaKeith A Josephs
Behavioural Neurology, Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
Brain 136:455-70. 2013.... - Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotypeNicola J Rutherford
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
Neurobiol Aging 33:2950.e5-7. 2012..No meaningful association between the repeat length of the normal alleles of the GGGGCC repeat in C9ORF72 and disease phenotype or age at onset was observed in C9ORF72 mutation carriers or nonmutation carriers... - Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptorMercedes Prudencio
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
Proc Natl Acad Sci U S A 109:21510-5. 2012..Based on these results, we propose a potential mechanism linking misregulation of sortilin splicing with altered PGRN metabolism... - Fus gene mutations in familial and sporadic amyotrophic lateral sclerosisRosa Rademakers
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA
Muscle Nerve 42:170-6. 2010..This study demonstrates that the phenotype with FUS mutations extends beyond classical ALS cases. Our findings suggest there are specific clinicogenetic correlations and provide the first detailed neuropathological description... - Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degenerationJennifer Gass
Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Hum Mol Genet 15:2988-3001. 2006..Neuropathological examination showed FTLD with ubiquitin-positive cytoplasmic and intranuclear inclusions in all PGRN mutation carriers... - An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathologyChristian Wider
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
J Neurol Neurosurg Psychiatry 83:424-9. 2012..The study investigates the effects of genetic factors on the pathology of Alzheimer's disease (AD) and Lewy body (LB) diseases, including Parkinson's disease and dementia with Lewy bodies... - Voxel-based morphometry in frontotemporal lobar degeneration with ubiquitin-positive inclusions with and without progranulin mutationsJennifer L Whitwell
Division of Behavioral Neurology, Department of Neurology, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA
Arch Neurol 64:371-6. 2007..Mutations in the progranulin gene (PGRN) have recently been identified as a cause of frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) in some families... - Unconventional Translation of C9ORF72 GGGGCC Expansion Generates Insoluble Polypeptides Specific to c9FTD/ALSPeter E A Ash
Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA Mayo Graduate School, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Neuron 77:639-46. 2013..These findings have significant implications for treatment strategies directed at RAN-translated peptides and their aggregation and the RNA structures necessary for their production... - Frontal asymmetry in behavioral variant frontotemporal dementia: clinicoimaging and pathogenetic correlatesJennifer L Whitwell
Department of Radiology, Mayo Clinic, Rochester, MN 55905, USA
Neurobiol Aging 34:636-9. 2013..These findings therefore suggest that neuroanatomical patterns of frontal lobe atrophy in bvFTD are influenced by specific gene mutations... - TARDBP mutations in Parkinson's diseaseSruti Rayaprolu
Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Parkinsonism Relat Disord 19:312-5. 2013..Our findings widen the phenotypic presentation for the TDP-43 p.N267S substitution and support a possible role for rare TDP-43 mutations presenting with Parkinson's disease... - De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosisMariely DeJesus-Hernandez
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Hum Mutat 31:E1377-89. 2010..S402_P411delinsGGGG) which is predicted to expand a conserved poly-glycine motif. Our findings extend the mutation spectrum in FUS leading to ALS and describe the first de novo mutation in FUS... - Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderlyDennis W Dickson
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Neurodegener Dis 7:170-4. 2010..Recently, a common genetic variant in the 3' untranslated region (3'UTR) of GRN (rs5848; c.*78C>T) located in a microRNA binding site regulated progranulin expression, and the T-allele was increased in FTLD-TDP compared to controls... - Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndromeNaomi Kouri
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
Brain 134:3264-75. 2011..Atrophy of anterior corpus callosum may be a potential neuroimaging marker to differentiate corticobasal degeneration from progressive supranuclear palsy in patients with Richardson syndrome... - Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosisNicola J Rutherford
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, United States of America
PLoS Genet 4:e1000193. 2008.... - Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosisAshley Cannon
From the Departments of Neuroscience A C, S F, N J R, R R, D W D, Neurology S F, K B B, N R G R, R J U, Z K W, Psychiatry and Psychology T J F, and Radiology D F B, Mayo Clinic, Jacksonville, FL
Neurology 80:1771-7. 2013..We examined the clinical and pathologic phenotypes of GRN mutation carriers with the pathogenic A9D (g.26C>A) missense mutation... - Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosisNicola J Rutherford
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
Neurobiol Aging 33:424.e23-4. 2012..Gly475del) was identified, however in vitro studies did not reveal abnormal localization of p.Gly475del mutant FUS. These findings suggest that not all exonic indels in FUS cause disease... - Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasmaMinerva M Carrasquillo
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
Am J Hum Genet 87:890-7. 2010..This finding opens avenues for future research into GRN biology and the pathophysiology of neurodegenerative diseases... - Advances in understanding the molecular basis of frontotemporal dementiaRosa Rademakers
Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL 32224, USA
Nat Rev Neurol 8:423-34. 2012..In this Review, we highlight recent advances in understanding the molecular aspects of FTD, which will provide the basis for improved patient care through the development of more-targeted diagnostic tests and therapies... - CSF1R mutations link POLD and HDLS as a single disease entityAlexandra M Nicholson
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
Neurology 80:1033-40. 2013..Recently, we reported that mutations in the colony-stimulating factor 1 receptor (CSF1R) gene cause HDLS. In this study, we determined whether CSF1R mutations are also a cause of POLD... - How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?Marka van Blitterswijk
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA
Curr Opin Neurol 25:689-700. 2012.... - Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions with progranulin gene (PGRN) mutationsKeith A Josephs
Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA
J Neuropathol Exp Neurol 66:142-51. 2007..On the other hand, there is no histopathologic feature or combination of features that is pathognomonic. Neuronal intranuclear inclusions are virtually always present, but they can be detected in PGRN(-) cases... - Ataxin-2 repeat-length variation and neurodegenerationOwen A Ross
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
Hum Mol Genet 20:3207-12. 2011.... - Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Matt Baker
Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, Florida 32224, USA
Nature 442:916-9. 2006..Our results identify mutations in PGRN as a cause of neurodegenerative disease and indicate the importance of PGRN function for neuronal survival... - Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansionElizabeth A Coon
Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Amyotroph Lateral Scler Frontotemporal Degener 14:132-7. 2013..In conclusion, this kindred demonstrates that the presentation of ALS within c9FTD/ALS families may vary considerably and electrophysiologic findings reflect this heterogeneity... - Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndromeMariely DeJesus-Hernandez
Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Parkinsonism Relat Disord 19:198-201. 2013..Therefore the C9orf72 hexanucleotide repeat expansion appears to be specific to TDP-43 driven amyotrophic lateral sclerosis and dementia... - Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansionKevin F Bieniek
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Acta Neuropathol 125:289-302. 2013.... - MRI characteristics and scoring in HDLS due to CSF1R gene mutationsChristina Sundal
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
Neurology 79:566-74. 2012..To describe the brain MRI characteristics of hereditary diffuse leukoencephalopathy with spheroids (HDLS) with known mutations in the colony-stimulating factor 1 receptor gene (CSF1R) on chromosome 5... - Hippocampal sclerosis in the elderly: genetic and pathologic findings, some mimicking Alzheimer disease clinicallyWinnie C Pao
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
Alzheimer Dis Assoc Disord 25:364-8. 2011..Hippocampal sclerosis (HpScl) in the elderly is often associated with neurodegeneration... - Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic miceYa Fei Xu
Department of Neuroscience, Mayo Clinic, Jacksonville, Florida 32224, USA
J Neurosci 30:10851-9. 2010..This TDP-43 transgenic line provides a valuable tool for identifying potential roles of wild-type TDP-43 within the CNS and for studying TDP-43-associated neurotoxicity... - Pallidonigral TDP-43 pathology in Perry syndromeChristian Wider
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
Parkinsonism Relat Disord 15:281-6. 2009..This study reports clinical, genetic and neuropathologic investigations of Perry syndrome... - Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementiaShinsuke Fujioka
Departments of Neurology, Mayo Clinic, Jacksonville, FL, USA
Acta Neuropathol 125:425-38. 2013..The results suggest that in some patients variants in EIF4G1 can be associated with pathology that has a high likelihood of association with clinical features of dementia with Lewy bodies... - Human genetics as a tool to identify progranulin regulatorsAlexandra M Nicholson
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
J Mol Neurosci 45:532-7. 2011..This review highlights the importance of genetic studies in the context of FTLD and further emphasizes the need for future genetic and cell biology research to continue the effort in finding a cure for progranulin-related diseases... - Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entityChristina Sundal
Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
J Neurol Sci 314:130-7. 2012..Definitive diagnosis can be established only by direct brain tissue examination. Familiarity with the clinical presentation and typical neuroimaging findings may be helpful in narrowing the diagnosis... - Longitudinal modeling of age-related memory decline and the APOE epsilon4 effectRichard J Caselli
Department of Neurology, Mayo Clinic Arizona, Scottsdale, Arizona 85259, USA
N Engl J Med 361:255-63. 2009..The age at which memory decline diverges among persons who are homozygous for the APOE epsilon4 allele, those who are heterozygous for the allele, and noncarriers is unknown... - Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic studyBradley F Boeve
Department of Neurology, Mayo Clinic Rochester, MN 55905, USA
Brain 129:3103-14. 2006..These findings suggest that the insR352 PSEN1 is not pathogenic, and the IVS1+1G-->A mutation in PGRN causes FTDP associated with FTLD-U pathology and represents a new class of neurodegenerative disease--the 'hypoprogranulinopathies'... - Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesisChristophe Verbeeck
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA
Mol Neurodegener 7:53. 2012..In this paper we report the development of somatic brain transgenic (SBT) mice using recombinant adeno-associated virus (rAAV) to investigate how FUS mutations lead to neurodegeneration... - Atypical motor and behavioral presentations of Alzheimer disease: a case-based approachAndrew P Duker
Department of Neurology, University of Cincinnati, Cincinnati, OH 45267 0525, USA
Neurologist 18:266-72. 2012..Alzheimer pathology, however, can cause varying clinical syndromes, including both atypical motor and behavioral presentations... - Corticobasal degeneration: a pathologically distinct 4R tauopathyNaomi Kouri
Department of Neuroscience Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Nat Rev Neurol 7:263-72. 2011..Progress in biomarker development to differentiate CBD from other disorders has been slow, but is essential in improving diagnosis and in development of disease-modifying therapies... - Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein geneNeeraj Kumar
Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Arch Neurol 68:1165-70. 2011..To report the clinical, electroencephalographic, and neuroradiologic findings in a kindred with a novel insertion in the prion protein gene, PRNP... - TARDBP mutation analysis in TDP-43 proteinopathies and deciphering the toxicity of mutant TDP-43Tania F Gendron
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
J Alzheimers Dis 33:S35-45. 2013..We discuss the putative harmful consequence of abnormal TDP-43 fragmentation, as well as highlight additional mechanisms of toxicity associated with mutant TDP-43... - Progranulin regulates neuronal outgrowth independent of sortilinJennifer Gass
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, USA
Mol Neurodegener 7:33. 2012..We sought to elucidate this relationship to determine what role SORT1, as a regulator of PGRN levels, plays in modulating PGRN's neurotrophic effects... - Progressive supranuclear palsy: pathology and geneticsDennis W Dickson
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
Brain Pathol 17:74-82. 2007..Imaging studies suggest that there may be sensitive and specific means to differentiate PSP from other parkinsonian disorders, but identification of a diagnostic biomarker is still elusive... - Frontotemporal lobar degeneration with TDP-43 proteinopathy and chromosome 9p repeat expansion in C9ORF72: clinicopathologic correlationEileen H Bigio
Cognitive Neurology and Alzheimer Disease CenterDepartments of Pathology Psychiatry Neurology Preventive Medicine, Northwestern University Feinberg School of Medicine, Chicago Illinois Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA
Neuropathology 33:122-33. 2013.... - A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitroMatthew J Winton
Center for Neurodegenerative Disease Research, Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
FEBS Lett 582:2252-6. 2008..Thus, A90V may be a genetic risk factor for FTLD/ALS because it predisposes nuclear TDP-43 to redistribute to the cytoplasm and form pathological aggregates... - Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson's disease patientsKaren Nuytemans
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, VIB, Antwerpen, Belgium
Eur J Hum Genet 16:471-9. 2008..Functional data should underlie a conclusion on the pathogenic nature of some mutations that have not been conclusively linked to disease... - Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau regionMarc Cruts
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium
Hum Mol Genet 14:1753-62. 2005..The presence of multiple homologous LCRs in the region predicts that other potentially more complex genomic rearrangements might be underlying FTDU-17... - Gene expression study on peripheral blood identifies progranulin mutationsGiovanni Coppola
Department of Neurology, Program in Neurogenetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095, USA
Ann Neurol 64:92-6. 2008..This proof-of-principle report supports the use of gene quantification as diagnostic screen for PGRN mutations and suggests a potential role for progranulin in Alzheimer's disease... - The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developmentsIan R A Mackenzie
Department of Pathology, Vancouver General Hospital, 855 West 12th Avenue, Vancouver, BC, V5Z 1M9, Canada
Neurogenetics 8:237-48. 2007..It is anticipated that these discoveries will facilitate the development of new diagnostic tests and therapeutics... - The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin geneIan R A Mackenzie
Department of Pathology and Laboratory Medicine, University of British Columbia and Vancouver Coastal Health Vancouver, BC, Canada
Brain 129:3081-90. 2006..These findings suggest that FTD caused by PGRN mutations has a recognizable pathology with the most characteristic feature being ub-ir NII... - High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsyRosa Rademakers
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Belgium
Hum Mol Genet 14:3281-92. 2005..Thus, risk variants on different H1 htSNP haplotypes and protective variants on H2 contribute to population risk for PSP... - PRNP Val129 homozygosity increases risk for early-onset Alzheimer's diseaseBart Dermaut
Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology VIB8, University of Antwerp, Antwerpen, Belgium
Ann Neurol 53:409-12. 2003..2; 95% CI, 1.4-7.1; p < 0.01). In patients with a positive family history, these risks increased to 2.6 (95% CI, 1.3-5.3; p < 0.01) and 3.5 (95% CI, 1.3-9.3; p = 0.01), respectively... - Characterization of ubiquitinated intraneuronal inclusions in a novel Belgian frontotemporal lobar degeneration familyDaniel Pirici
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB8, Institute Born-Bunge, University of Antwerp, Belgium
J Neuropathol Exp Neurol 65:289-301. 2006..Whereas the precise nature of the protein remains elusive, characterization of such familial FTLD-U patients would be helpful in identifying a common denominator in the pathogenesis of familial and the more prevalent sporadic FTLD-U... - A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLDJulie van der Zee
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium
Brain 129:841-52. 2006..Together, these results strongly suggest that the DR2-DR8 founder haplotype at 17q21 harbours a tau-negative FTLD causing mutation that is a much more frequent cause of FTLD in Belgium than MAPT mutations... - Dose dependent effect of APOE epsilon4 on behavioral symptoms in frontal lobe dementiaSebastiaan Engelborghs
Department of Neurology and Memory Clinic, Middelheim General Hospital, ZNA, Antwerp, Belgium
Neurobiol Aging 27:285-92. 2006..In conclusion, APOE has disease-specific effects on BPSD in FTD and PDD/DLB patients, given the reported associations of APOE epsilon4 with aggression (FTD) and of APOE epsilon2 with delusions (PDD/DLB)... - Tau is central in the genetic Alzheimer-frontotemporal dementia spectrumBart Dermaut
Department of Molecular Genetics (VIB 8, Flanders Interuniversity Institute for Biotechnology, Neurodegenerative Brain Diseases Group, University of Antwerp, Campus Drie Eiken, Universiteitsplein 1, B-2610 Antwerpen, Belgium
Trends Genet 21:664-72. 2005..Together, these studies suggest that AD and FTD are linked in a genetic spectrum of presenile degenerative brain disorders in which tau appears to be the central player... - Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21Marc Cruts
Neurodegenerative Brain Diseases Group, Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Universiteitsplein 1, BE 2610 Antwerpen, Belgium
Nature 442:920-4. 2006..Furthermore, in a Belgian series of familial FTD patients, PGRN mutations were 3.5 times more frequent than mutations in MAPT, underscoring a principal involvement of PGRN in FTD pathogenesis... - TDP-43 A315T mutation in familial motor neuron diseaseMichael A Gitcho
Alzheimer s Disease Research Center, Washington University School of Medicine, St Louis, MO 63110, USA
Ann Neurol 63:535-8. 2008..The discovery of a missense mutation in TDP-43 in a family with dominantly inherited motor neuron disease provides evidence of a direct link between altered TDP-43 function and neurodegeneration... - novoSNP, a novel computational tool for sequence variation discoveryStefan Weckx
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium
Genome Res 15:436-42. 2005.... - Novel APP mutation V715A associated with presenile Alzheimer's disease in a German familyMarc Cruts
J Neurol 250:1374-5. 2003 - Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patientsIlse Gijselinck
Hum Mutat 27:1057-9. 2006 - Genetics of early-onset Alzheimer dementiaRosa Rademakers
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB, University of Antwerp, Antwerpen, Belgium
ScientificWorldJournal 3:497-519. 2003..Now, transgenic mice are produced to study the influence of EOAD mutations in vivo, eventually leading to the development of novel therapeutic strategies... - Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sampleRosa Rademakers
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
Am J Hum Genet 77:643-52. 2005....
Research Grants
- Progranulin: Mutation and Regulation in Neurodegenerative diseaseRosa Rademakers; Fiscal Year: 2010..Unveiling the genetic and molecular pathways regulating PGRN may also reveal novel therapeutic targets that can be exploited for therapeutic actions aimed at delaying the neurodegenerative disease process. ..