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Your search keyword '"Cras, Patrick"' showing total 9 results
Start Over Author "Cras, Patrick" Journal annals of neurology
9 results on '"Cras, Patrick"'

1. Cerebrospinal fluid real‐time quaking‐induced conversion is a robust and reliable test for sporadic creutzfeldt–jakob disease: An international study

Author

McGuire, Lynne I., primary, Poleggi, Anna, additional, Poggiolini, Ilaria, additional, Suardi, Silvia, additional, Grznarova, Katarina, additional, Shi, Song, additional, de Vil, Bart, additional, Sarros, Shannon, additional, Satoh, Katsuya, additional, Cheng, Keding, additional, Cramm, Maria, additional, Fairfoul, Graham, additional, Schmitz, Matthias, additional, Zerr, Inga, additional, Cras, Patrick, additional, Equestre, Michele, additional, Tagliavini, Fabrizio, additional, Atarashi, Ryuichiro, additional, Knox, David, additional, Collins, Steven, additional, Haïk, Stéphane, additional, Parchi, Piero, additional, Pocchiari, Maurizio, additional, and Green, Alison, additional

Published
2016
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2. A novel presenilin 1 mutation associated with Pick's disease but not β‐amyloid plaques

Author

Dermaut, Bart, primary, Kumar‐Singh, Samir, additional, Engelborghs, Sebastian, additional, Theuns, Jessie, additional, Rademakers, Rosa, additional, Saerens, Jos, additional, Pickut, Barbara A., additional, Peeters, Karin, additional, Van Den Broeck, Marleen, additional, Vennekens, Krist'l, additional, Claes, Stephen, additional, Cruts, Marc, additional, Cras, Patrick, additional, Martin, Jean‐Jacques, additional, Van Broeckhoven, Christine, additional, and De Deyn, Peter Paul, additional

Published
2004
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3. ?-Synuclein promoter confers susceptibility to Parkinson's disease

Author

Pals, Philippe, primary, Lincoln, Sarah, additional, Manning, Jonathan, additional, Heckman, Michael, additional, Skipper, Lisa, additional, Hulihan, Mary, additional, Van den Broeck, Marleen, additional, De Pooter, Tim, additional, Cras, Patrick, additional, Crook, Julia, additional, Van Broeckhoven, Christine, additional, and Farrer, Matt J., additional

Published
2004
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4. Endocytic disturbances distinguish among subtypes of alzheimer's disease and related disorders

Author

Cataldo, Anne, primary, Rebeck, G. William, additional, Ghetti, Bernadino, additional, Hulette, Christine, additional, Lippa, Carol, additional, Van Broeckhoven, Christine, additional, Van Duijn, Cornelia, additional, Cras, Patrick, additional, Bogdanovic, Nenad, additional, Bird, Thomas, additional, Peterhoff, Corrinne, additional, and Nixon, Ralph, additional

Published
2001
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6. α‐Synuclein promoter confers susceptibility to Parkinson's disease

Author

Pals, Philippe, Lincoln, Sarah, Manning, Jonathan, Heckman, Michael, Skipper, Lisa, Hulihan, Mary, Van den Broeck, Marleen, De Pooter, Tim, Cras, Patrick, Crook, Julia, Van Broeckhoven, Christine, and Farrer, Matt J.

Abstract

Familial Parkinson's disease (PD) has been linked to missense and genomic multiplication mutations of the α‐synuclein gene (SNCA). Genetic variability within SNCAhas been implicated in idiopathic PD in many populations. We now confirm and extend these findings, within a Belgian sample, using a high‐resolution map of genetic markers across the SNCAlocus. Our study implicates the SNCApromoter in susceptibility to PD, and more specifically defines a minimum promoter haplotype, spanning approximately 15.3kb of sequence, which is overrepresented in patients. Our findings represent a biomarker for PD and may have implications for patient diagnosis, longitudinal evaluation, and treatment. Ann Neurol 2004;56:591–595

Published
2004
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8. alpha-Synuclein promoter confers susceptibility to Parkinson's disease.

Author

Pals P, Lincoln S, Manning J, Heckman M, Skipper L, Hulihan M, Van den Broeck M, De Pooter T, Cras P, Crook J, Van Broeckhoven C, and Farrer MJ

Subjects
Adult, Aged, Case-Control Studies, Exons, Female, Genetic Markers, Genome, Haplotypes, Humans, Linkage Disequilibrium, Male, Middle Aged, Reverse Transcriptase Polymerase Chain Reaction methods, Synucleins, alpha-Synuclein, Disease Susceptibility, Nerve Tissue Proteins genetics, Parkinson Disease genetics, Promoter Regions, Genetic
Abstract

Familial Parkinson's disease (PD) has been linked to missense and genomic multiplication mutations of the alpha-synuclein gene (SNCA). Genetic variability within SNCA has been implicated in idiopathic PD in many populations. We now confirm and extend these findings, within a Belgian sample, using a high-resolution map of genetic markers across the SNCA locus. Our study implicates the SNCA promoter in susceptibility to PD, and more specifically defines a minimum promoter haplotype, spanning approximately 15.3kb of sequence, which is overrepresented in patients. Our findings represent a biomarker for PD and may have implications for patient diagnosis, longitudinal evaluation, and treatment.

Published
2004
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9. A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.

Author

Dermaut B, Kumar-Singh S, Engelborghs S, Theuns J, Rademakers R, Saerens J, Pickut BA, Peeters K, van den Broeck M, Vennekens K, Claes S, Cruts M, Cras P, Martin JJ, Van Broeckhoven C, and De Deyn PP

Subjects
Aged, Amino Acid Substitution genetics, Female, Follow-Up Studies, Humans, Magnetic Resonance Imaging methods, Male, Middle Aged, Pedigree, Plaque, Amyloid pathology, Presenilin-1, Amyloid beta-Peptides genetics, Membrane Proteins genetics, Mutation, Pick Disease of the Brain genetics, Pick Disease of the Brain pathology, Plaque, Amyloid genetics
Abstract

Familial forms of frontotemporal dementia (FTD) with tauopathy are mostly caused by mutations in the gene encoding the microtubule-associated protein tau (MAPT). However, rare forms of familial tauopathy without MAPT mutations have been reported, suggesting other tauopathy-related genetic defects. Interestingly, two presenilin 1 (PS1) mutations (Leu113Pro and insArg352) recently have been associated with familial FTD albeit without neuropathological confirmation. We report here a novel PS1 mutation in a patient with Pick-type tauopathy in the absence of extracellular beta-amyloid deposits. The mutation is predicted to substitute Gly-->Val at codon position 183 (Gly183Val) and to affect the splice signal at the junction of the sixth exon and intron. Further clinical-genetic investigation showed a positive family history of FTD-like dementia and suggested that Gly183Val is associated with a phenotypically heterogeneous neurodegenerative disorder. Our results suggest PS1 as a candidate gene for Pick-type tauopathy without MAPT mutations.

Published
2004
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