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FältnamnIndikatorerMetadata
00006099naa a2200997 4500
001oai:lup.lub.lu.se:fc9f0259-c727-40ec-b56a-3ef69c2284fd
003SwePub
008160401s2012 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/24946162 URI
0247 a https://doi.org/10.1016/S1474-4422(12)70043-12 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Majounie, Elisa4 aut
2451 0a Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
264 1c 2012
338 a electronic2 rdacarrier
520 a Background We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Methods We screened 4448 patients diagnosed with ALS (El Escorial criteria) and 1425 patients with FTD (Lund-Manchester criteria) from 17 regions worldwide for the GGGGCC hexanucleotide expansion using a repeat-primed PCR assay. We assessed familial disease status on the basis of self-reported family history of similar neurodegenerative diseases at the time of sample collection. We compared haplotype data for 262 patients carrying the expansion with the known Finnish founder risk haplotype across the chromosomal locus. We calculated age-related penetrance using the Kaplan-Meier method with data for 603 individuals with the expansion. Findings In patients with sporadic ALS, we identified the repeat expansion in 236 (7.0%) of 3377 white individuals from the USA, Europe, and Australia, two (4.1%) of 49 black individuals from the USA, and six (8.3%) of 72 Hispanic individuals from the USA. The mutation was present in 217 (39.3%) of 552 white individuals with familial MS from Europe and the USA. 59 (6.0%) of 981 white Europeans with sporadic FTD had the mutation, as did 99 (24.8%) of 400 white Europeans with familial FTD. Data for other ethnic groups were sparse, but we identified one Asian patient with familial ALS (from 20 assessed) and two with familial FTD (from three assessed) who carried the mutation. The mutation was not carried by the three Native Americans or 360 patients from Asia or the Pacific Islands with sporadic MS who were tested, or by 41 Asian patients with sporadic FTD. All patients with the repeat expansion had (partly or fully) the founder haplotype, suggesting a one-off expansion occurring about 1500 years ago. The pathogenic expansion was non-penetrant in individuals younger than 35 years, 50% penetrant by 58 years, and almost fully penetrant by 80 years. Interpretation A common Mendelian genetic lesion in C9472 is implicated in many cases of sporadic and familial ALS and FTD. Testing for this pathogenic expansion should be considered in the management and genetic counselling of patients with these fatal neurodegenerative diseases.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
7001 a Renton, Alan E.4 aut
7001 a Mok, Kin4 aut
7001 a Dopper, Elise G. P.4 aut
7001 a Waite, Adrian4 aut
7001 a Rollinson, Sara4 aut
7001 a Chio, Adrian4 aut
7001 a Restagno, Gabriella4 aut
7001 a Nicolaou, Nayia4 aut
7001 a Simon-Sanchez, Javier4 aut
7001 a van Swieten, John C.4 aut
7001 a Abramzon, Yevgeniya4 aut
7001 a Johnson, Janel O.4 aut
7001 a Sendtner, Michael4 aut
7001 a Pamphlett, Roger4 aut
7001 a Orrell, Richard W.4 aut
7001 a Mead, Simon4 aut
7001 a Sidle, Katie C.4 aut
7001 a Houlden, Henry4 aut
7001 a Rohrer, Jonathan D.4 aut
7001 a Morrison, Karen E.4 aut
7001 a Pall, Hardev4 aut
7001 a Talbot, Kevin4 aut
7001 a Ansorge, Olaf4 aut
7001 a Hernandez, Dena G.4 aut
7001 a Arepalli, Sampath4 aut
7001 a Sabatelli, Mario4 aut
7001 a Mora, Gabriele4 aut
7001 a Corbo, Massimo4 aut
7001 a Giannini, Fabio4 aut
7001 a Calvo, Andrea4 aut
7001 a Englund, Elisabetu Lund University,Lunds universitet,Tumörmikromiljö,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumor microenvironment,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)pat-een
7001 a Borghero, Giuseppe4 aut
7001 a Foris, Gian Luca4 aut
7001 a Remes, Anne M.4 aut
7001 a Laaksovirta, Hannu4 aut
7001 a McCluskey, Leo4 aut
7001 a Trojanowski, John Q.4 aut
7001 a Van Deerlin, Vivianna M.4 aut
7001 a Schellenberg, Gerard D.4 aut
7001 a Nalls, Michael A.4 aut
7001 a Drory, Vivian E.4 aut
7001 a Lu, Chin-Song4 aut
7001 a Yeh, Tu-Hsueh4 aut
7001 a Ishiura, Hiroyuki4 aut
7001 a Takahashi, Yuji4 aut
7001 a Tsuji, Shoji4 aut
7001 a Le Ber, Isabelle4 aut
7001 a Brice, Alexis4 aut
7001 a Drepper, Carsten4 aut
7001 a Williams, Nigel4 aut
7001 a Kirby, Janine4 aut
7001 a Shaw, Pamela4 aut
7001 a Hardy, John4 aut
7001 a Tienari, Pentti J.4 aut
7001 a Heutink, Peter4 aut
7001 a Morris, Huw R.4 aut
7001 a Pickering-Brown, Stuart4 aut
7001 a Traynor, Bryan J.4 aut
7102 a Tumörmikromiljöb Sektion I4 org
7730 t Lancet Neurologyg 11:4, s. 323-330q 11:4<323-330x 1474-4465
8564 u https://portal.research.lu.se/files/2478407/2541052.pdfx primaryx freey FULLTEXT
8564 u http://dx.doi.org/10.1016/S1474-4422(12)70043-1y FULLTEXT
8564 8u https://lup.lub.lu.se/record/2494616
8564 8u https://doi.org/10.1016/S1474-4422(12)70043-1

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