Research ExplorerPublicationsC9ORF72 repeat expansion in Australian and Spanish frontotem...

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

Standard

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. / Dobson-Stone, Carol; Hallupp, Marianne; Loy, Clement T; Thompson, Elizabeth M; Haan, Eric; Sue, Carolyn M; Panegyres, Peter K; Razquin, Cristina; Seijo-Martínez, Manuel; Rene, Ramon; Gascon, Jordi; Campdelacreu, Jaume; Schmoll, Birgit; Volk, Alexander E; Brooks, William S; Schofield, Peter R; Pastor, Pau; Kwok, John B J.

In: PLOS ONE, Vol. 8, No. 2, 2013, p. e56899.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Dobson-Stone, C, Hallupp, M, Loy, CT, Thompson, EM, Haan, E, Sue, CM, Panegyres, PK, Razquin, C, Seijo-Martínez, M, Rene, R, Gascon, J, Campdelacreu, J, Schmoll, B, Volk, AE, Brooks, WS, Schofield, PR, Pastor, P & Kwok, JBJ 2013, 'C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients', PLOS ONE, vol. 8, no. 2, pp. e56899. https://doi.org/10.1371/journal.pone.0056899

APA

Dobson-Stone, C., Hallupp, M., Loy, C. T., Thompson, E. M., Haan, E., Sue, C. M., Panegyres, P. K., Razquin, C., Seijo-Martínez, M., Rene, R., Gascon, J., Campdelacreu, J., Schmoll, B., Volk, A. E., Brooks, W. S., Schofield, P. R., Pastor, P., & Kwok, J. B. J. (2013). C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. PLOS ONE, 8(2), e56899. https://doi.org/10.1371/journal.pone.0056899

Vancouver

Dobson-Stone C, Hallupp M, Loy CT, Thompson EM, Haan E, Sue CM et al. C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients. PLOS ONE. 2013;8(2):e56899. https://doi.org/10.1371/journal.pone.0056899

Bibtex

@article{e8bb17c426cf4a60842608da946de9e1,
title = "C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients",
abstract = "A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known. The aims of our study were to determine the frequency of the C9ORF72 repeat expansion in two FTD patient collections (one Australian and one Spanish, combined n = 190), to examine C9ORF72 expansion allele length in a subset of FTD patients, and to examine C9ORF72 allele length in 'non-expansion' patients (those with <30 repeats). The C9ORF72 repeat expansion was detected in 5-17% of patients (21-41% of familial FTD patients). For one family, the expansion was present in the proband but absent in the mother, who was diagnosed with dementia at age 68. No association was found between C9ORF72 non-expanded allele length and age of onset and in the Spanish sample mean allele length was shorter in cases than in controls. Southern blotting analysis revealed that one of the nine 'expansion-positive' patients examined, who had neuropathologically confirmed frontotemporal lobar degeneration with TDP-43 pathology, harboured an 'intermediate' allele with a mean size of only ∼65 repeats. Our study indicates that the C9ORF72 repeat expansion accounts for a significant proportion of Australian and Spanish FTD cases. However, C9ORF72 allele length does not influence the age at onset of 'non-expansion' FTD patients in the series examined. Expansion of the C9ORF72 allele to as little as ∼65 repeats may be sufficient to cause disease.",
keywords = "Aged, Alleles, Australia, DNA Repeat Expansion, European Continental Ancestry Group, Female, Frontotemporal Dementia, Humans, Male, Middle Aged, Proteins, Spain",
author = "Carol Dobson-Stone and Marianne Hallupp and Loy, {Clement T} and Thompson, {Elizabeth M} and Eric Haan and Sue, {Carolyn M} and Panegyres, {Peter K} and Cristina Razquin and Manuel Seijo-Mart{\'i}nez and Ramon Rene and Jordi Gascon and Jaume Campdelacreu and Birgit Schmoll and Volk, {Alexander E} and Brooks, {William S} and Schofield, {Peter R} and Pau Pastor and Kwok, {John B J}",
year = "2013",
doi = "10.1371/journal.pone.0056899",
language = "English",
volume = "8",
pages = "e56899",
journal = "PLOS ONE",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "2",

}

RIS

TY - JOUR

T1 - C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

AU - Dobson-Stone, Carol

AU - Hallupp, Marianne

AU - Loy, Clement T

AU - Thompson, Elizabeth M

AU - Haan, Eric

AU - Sue, Carolyn M

AU - Panegyres, Peter K

AU - Razquin, Cristina

AU - Seijo-Martínez, Manuel

AU - Rene, Ramon

AU - Gascon, Jordi

AU - Campdelacreu, Jaume

AU - Schmoll, Birgit

AU - Volk, Alexander E

AU - Brooks, William S

AU - Schofield, Peter R

AU - Pastor, Pau

AU - Kwok, John B J

PY - 2013

Y1 - 2013

N2 - A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known. The aims of our study were to determine the frequency of the C9ORF72 repeat expansion in two FTD patient collections (one Australian and one Spanish, combined n = 190), to examine C9ORF72 expansion allele length in a subset of FTD patients, and to examine C9ORF72 allele length in 'non-expansion' patients (those with <30 repeats). The C9ORF72 repeat expansion was detected in 5-17% of patients (21-41% of familial FTD patients). For one family, the expansion was present in the proband but absent in the mother, who was diagnosed with dementia at age 68. No association was found between C9ORF72 non-expanded allele length and age of onset and in the Spanish sample mean allele length was shorter in cases than in controls. Southern blotting analysis revealed that one of the nine 'expansion-positive' patients examined, who had neuropathologically confirmed frontotemporal lobar degeneration with TDP-43 pathology, harboured an 'intermediate' allele with a mean size of only ∼65 repeats. Our study indicates that the C9ORF72 repeat expansion accounts for a significant proportion of Australian and Spanish FTD cases. However, C9ORF72 allele length does not influence the age at onset of 'non-expansion' FTD patients in the series examined. Expansion of the C9ORF72 allele to as little as ∼65 repeats may be sufficient to cause disease.

AB - A hexanucleotide repeat expansion in C9ORF72 has been established as a common cause of frontotemporal dementia (FTD). However, the minimum repeat number necessary for disease pathogenesis is not known. The aims of our study were to determine the frequency of the C9ORF72 repeat expansion in two FTD patient collections (one Australian and one Spanish, combined n = 190), to examine C9ORF72 expansion allele length in a subset of FTD patients, and to examine C9ORF72 allele length in 'non-expansion' patients (those with <30 repeats). The C9ORF72 repeat expansion was detected in 5-17% of patients (21-41% of familial FTD patients). For one family, the expansion was present in the proband but absent in the mother, who was diagnosed with dementia at age 68. No association was found between C9ORF72 non-expanded allele length and age of onset and in the Spanish sample mean allele length was shorter in cases than in controls. Southern blotting analysis revealed that one of the nine 'expansion-positive' patients examined, who had neuropathologically confirmed frontotemporal lobar degeneration with TDP-43 pathology, harboured an 'intermediate' allele with a mean size of only ∼65 repeats. Our study indicates that the C9ORF72 repeat expansion accounts for a significant proportion of Australian and Spanish FTD cases. However, C9ORF72 allele length does not influence the age at onset of 'non-expansion' FTD patients in the series examined. Expansion of the C9ORF72 allele to as little as ∼65 repeats may be sufficient to cause disease.

KW - Aged

KW - Alleles

KW - Australia

KW - DNA Repeat Expansion

KW - European Continental Ancestry Group

KW - Female

KW - Frontotemporal Dementia

KW - Humans

KW - Male

KW - Middle Aged

KW - Proteins

KW - Spain

U2 - 10.1371/journal.pone.0056899

DO - 10.1371/journal.pone.0056899

M3 - SCORING: Journal article

C2 - 23437264

VL - 8

SP - e56899

JO - PLOS ONE

JF - PLOS ONE

SN - 1932-6203

IS - 2

ER -