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Expanded van der GCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion of a noncoding van der GCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with... Full description

Journal Title: Neuron (Cambridge Mass.), 2011-10-20, Vol.72 (2), p.245-256
Main Author: DeJesus-Hernandez, Mariely
Other Authors: Mackenzie, Ian R , Boeve, Bradley F , Boxer, Adam L , Baker, Matt , Rutherford, Nicola J , Nicholson, Alexandra M , Finch, NiCole A , Flynn, Heather , Adamson, Jennifer , Kouri, Naomi , Wojtas, Aleksandra , Sengdy, Pheth , Hsiung, Ging-Yuek R , Karydas, Anna , Seeley, William W , Josephs, Keith A , Coppola, Giovanni , Geschwind, Daniel H , Wszolek, Zbigniew K , Feldman, Howard , Knopman, David S , Petersen, Ronald C , Miller, Bruce L , Dickson, Dennis W , Boylan, Kevin B , Graff-Radford, Neill R , Rademakers, Rosa
Format: Electronic Article Electronic Article
Language: English
Quelle: Alma/SFX Local Collection
ID: ISSN: 0896-6273
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title: Expanded van der GCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
format: Article
creator:
  • DeJesus-Hernandez, Mariely
  • Mackenzie, Ian R
  • Boeve, Bradley F
  • Boxer, Adam L
  • Baker, Matt
  • Rutherford, Nicola J
  • Nicholson, Alexandra M
  • Finch, NiCole A
  • Flynn, Heather
  • Adamson, Jennifer
  • Kouri, Naomi
  • Wojtas, Aleksandra
  • Sengdy, Pheth
  • Hsiung, Ging-Yuek R
  • Karydas, Anna
  • Seeley, William W
  • Josephs, Keith A
  • Coppola, Giovanni
  • Geschwind, Daniel H
  • Wszolek, Zbigniew K
  • Feldman, Howard
  • Knopman, David S
  • Petersen, Ronald C
  • Miller, Bruce L
  • Dickson, Dennis W
  • Boylan, Kevin B
  • Graff-Radford, Neill R
  • Rademakers, Rosa
ispartof: Neuron (Cambridge, Mass.), 2011-10-20, Vol.72 (2), p.245-256
description: Several families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion of a noncoding van der GCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively linked to chromosome 9p. This same repeat expansion was identified in the majority of our families with a combined FTD/ALS phenotype and TDP-43-based pathology. Analysis of extended clinical series found the C9ORF72 repeat expansion to be the most common genetic abnormality in both familial FTD (11.7%) and familial ALS (23.5%). The repeat expansion leads to the loss of one alternatively spliced C9ORF72 transcript and to formation of nuclear RNA foci, suggesting multiple disease mechanisms. Our findings indicate that repeat expansion in C9ORF72 is a major cause of both FTD and ALS.
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 0896-6273
fulltext: fulltext
issn:
  • 0896-6273
  • 1097-4199
url: Link


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titleExpanded van der GCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
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creatorDeJesus-Hernandez, Mariely ; Mackenzie, Ian R ; Boeve, Bradley F ; Boxer, Adam L ; Baker, Matt ; Rutherford, Nicola J ; Nicholson, Alexandra M ; Finch, NiCole A ; Flynn, Heather ; Adamson, Jennifer ; Kouri, Naomi ; Wojtas, Aleksandra ; Sengdy, Pheth ; Hsiung, Ging-Yuek R ; Karydas, Anna ; Seeley, William W ; Josephs, Keith A ; Coppola, Giovanni ; Geschwind, Daniel H ; Wszolek, Zbigniew K ; Feldman, Howard ; Knopman, David S ; Petersen, Ronald C ; Miller, Bruce L ; Dickson, Dennis W ; Boylan, Kevin B ; Graff-Radford, Neill R ; Rademakers, Rosa
creatorcontribDeJesus-Hernandez, Mariely ; Mackenzie, Ian R ; Boeve, Bradley F ; Boxer, Adam L ; Baker, Matt ; Rutherford, Nicola J ; Nicholson, Alexandra M ; Finch, NiCole A ; Flynn, Heather ; Adamson, Jennifer ; Kouri, Naomi ; Wojtas, Aleksandra ; Sengdy, Pheth ; Hsiung, Ging-Yuek R ; Karydas, Anna ; Seeley, William W ; Josephs, Keith A ; Coppola, Giovanni ; Geschwind, Daniel H ; Wszolek, Zbigniew K ; Feldman, Howard ; Knopman, David S ; Petersen, Ronald C ; Miller, Bruce L ; Dickson, Dennis W ; Boylan, Kevin B ; Graff-Radford, Neill R ; Rademakers, Rosa
descriptionSeveral families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion of a noncoding van der GCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively linked to chromosome 9p. This same repeat expansion was identified in the majority of our families with a combined FTD/ALS phenotype and TDP-43-based pathology. Analysis of extended clinical series found the C9ORF72 repeat expansion to be the most common genetic abnormality in both familial FTD (11.7%) and familial ALS (23.5%). The repeat expansion leads to the loss of one alternatively spliced C9ORF72 transcript and to formation of nuclear RNA foci, suggesting multiple disease mechanisms. Our findings indicate that repeat expansion in C9ORF72 is a major cause of both FTD and ALS.
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descriptionSeveral families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion of a noncoding van der GCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively linked to chromosome 9p. This same repeat expansion was identified in the majority of our families with a combined FTD/ALS phenotype and TDP-43-based pathology. Analysis of extended clinical series found the C9ORF72 repeat expansion to be the most common genetic abnormality in both familial FTD (11.7%) and familial ALS (23.5%). The repeat expansion leads to the loss of one alternatively spliced C9ORF72 transcript and to formation of nuclear RNA foci, suggesting multiple disease mechanisms. Our findings indicate that repeat expansion in C9ORF72 is a major cause of both FTD and ALS.
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authorDeJesus-Hernandez, Mariely ; Mackenzie, Ian R ; Boeve, Bradley F ; Boxer, Adam L ; Baker, Matt ; Rutherford, Nicola J ; Nicholson, Alexandra M ; Finch, NiCole A ; Flynn, Heather ; Adamson, Jennifer ; Kouri, Naomi ; Wojtas, Aleksandra ; Sengdy, Pheth ; Hsiung, Ging-Yuek R ; Karydas, Anna ; Seeley, William W ; Josephs, Keith A ; Coppola, Giovanni ; Geschwind, Daniel H ; Wszolek, Zbigniew K ; Feldman, Howard ; Knopman, David S ; Petersen, Ronald C ; Miller, Bruce L ; Dickson, Dennis W ; Boylan, Kevin B ; Graff-Radford, Neill R ; Rademakers, Rosa
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pages245-256
issn0896-6273
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abstractSeveral families have been reported with autosomal-dominant frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), genetically linked to chromosome 9p21. Here, we report an expansion of a noncoding van der GCC hexanucleotide repeat in the gene C9ORF72 that is strongly associated with disease in a large FTD/ALS kindred, previously reported to be conclusively linked to chromosome 9p. This same repeat expansion was identified in the majority of our families with a combined FTD/ALS phenotype and TDP-43-based pathology. Analysis of extended clinical series found the C9ORF72 repeat expansion to be the most common genetic abnormality in both familial FTD (11.7%) and familial ALS (23.5%). The repeat expansion leads to the loss of one alternatively spliced C9ORF72 transcript and to formation of nuclear RNA foci, suggesting multiple disease mechanisms. Our findings indicate that repeat expansion in C9ORF72 is a major cause of both FTD and ALS.
doi10.1016/j.neuron.2011.09.011