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001-es BibID:	BIBFORM051632
035-os BibID:	PMID: 22692064
Első szerző:	Smith, Bradley
Cím:	The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder / Bradley N. Smith, Stephen Newhouse, Aleksey Shatunov, Caroline Vance, Simon Topp, Lauren Johnson, Jack Miller, Younbok Lee, Claire Troakes, Kirsten M. Scott, Ashley Jones, Ian Gray, Jamie Wright, Tibor Hortobágyi, Safa Al-Sarraj, Boris Rogelj, John Powell, Michelle Lupton, Simon Lovestone, Peter C. Sapp, Markus Weber, Peter J. Nestor, Helenius J. Schelhaas, Anneloor ALM ten Asbroek, Vincenzo Silani, Cinzia Gellera, Franco Taroni, Nicola Ticozzi, Leonard Van den Berg, Jan Veldink, Phillip Van Damme, Wim Robberecht, Pamela J. Shaw, Janine Kirby, Hardev Pall, Karen E. Morrison, Alex Morris, Jacqueline de Belleroche, J. M. B. Vianney de Jong, Frank Baas, Peter M. Andersen, John Landers, Robert H. Brown Jr., Michael E. Weale, Ammar Al-Chalabi, Christopher E. Shaw
Dátum:	2013
ISSN:	1018-4813
Megjegyzések:	A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we describe the frequency, origin and stability of this mutation in ALS+/-FTD from five European cohorts (total n=1347). Single-nucleotide polymorphisms defining the risk haplotype in linked kindreds were genotyped in cases (n=434) and controls (n=856). Haplotypes were analysed using PLINK and aged using DMLE+. In a London clinic cohort, the HREM was the most common mutation in familial ALS+/-FTD: C9ORF72 29/112 (26%), SOD1 27/112 (24%), TARDBP 1/112 (1%) and FUS 4/112 (4%) and detected in 13/216 (6%) of unselected sporadic ALS cases but was rare in controls (3/856, 0.3%). HREM prevalence was high for familial ALS+/-FTD throughout Europe: Belgium 19/22 (86%), Sweden 30/41 (73%), the Netherlands 10/27 (37%) and Italy 4/20 (20%). The HREM did not affect the age at onset or survival of ALS patients. Haplotype analysis identified a common founder in all 137 HREM carriers that arose around 6300 years ago. The haplotype from which the HREM arose is intrinsically unstable with an increased number of repeats (average 8, compared with 2 for controls, P<10(-8)). We conclude that the HREM has a single founder and is the most common mutation in familial and sporadic ALS in Europe.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	European Journal of Human Genetics. - 21 : 1 (2013), p. 102-108. -
További szerzők:	Newhouse, Stephen Shatunov, Aleksey Vance, Caroline Topp, Simon Johnson, Lauren Miller, Jack Lee, Younbok Troakes, Claire Scott, Kirsten M. Jones, Ashley Gray, Ian Wright, Jamie Hortobágyi Tibor (1965-) (patológus) Al-Sarraj, Safa Rogelj, Boris Powell, John Lupton, Michelle Lovestone, Simon Sapp, Peter C. Weber, Markus Nestor, Peter J. Schelhaas, Helenius J. Asbroek, Anneloor ALM ten Silani, Vincenzo Gellera, Cinzia Taroni, Franco Ticozzi, Nicola Van den Berg, Leonard H. Veldink, Jan H. Van Damme, Phillip Robberecht, Wim Shaw, Pamela J. Kirby, Janine Pall, Hardev Morrison, Karen E. Morris, Alex de Belleroche, Jacqueline Vianney de Jong, J. M. B. Baas, Frank Andersen, Peter M. Landers, John Brown, Robert H. (Jr.) Weale, Michael E. Al-Chalabi, Ammar Shaw, Christopher E.
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001-es BibID:	BIBFORM020033
Első szerző:	Vance, Caroline
Cím:	Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6 / Caroline Vance, Boris Rogelj, Tibor Hortobagyi, Kurt J. De Vos, Agnes Lumi Nishimura, Jemeen Sreedharan, Xun Hu, Bradley Smith, Deborah Ruddy, Paul Wright, Jeban Ganesalingam, Kelly L. Williams, Vineeta Tripathi, Safa Al-Saraj, Ammar Al-Chalabi, P. Nigel Leigh, Ian P. Blair, Garth Nicholson, Jackie de Belleroche, Jean-Marc Gallo, Christopher C. Miller, Christopher E. Shaw
Dátum:	2009
ISSN:	0036-8075
Megjegyzések:	Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that is familial in 10% of cases. We have identified a missense mutation in the gene encoding fused in sarcoma (FUS) in a British kindred, linked to ALS6. In a survey of 197 familial ALS index cases, we identified two further missense mutations in eight families. Postmortem analysis of three cases with FUS mutations showed FUS-immunoreactive cytoplasmic inclusions and predominantly lower motor neuron degeneration. Cellular expression studies revealed aberrant localization of mutant FUS protein. FUS is involved in the regulation of transcription and RNA splicing and transport, and it has functional homology to another ALS gene, TARDBP, which suggests that a common mechanism may underlie motor neuron degeneration.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Science. - 323 : 5918 (2009), p. 1208-1211. -
További szerzők:	Rogelj, Boris Hortobágyi Tibor (1965-) (patológus) De Vos, Kurt J. Nishimura, Agnes Lumi Sreedharan, Jemeen Hu, Xun Smith, Bradley Ruddy, Deborah Wright, Paul Ganesalingam, Jeban Williams, Kelly L. Tripathi, Vineeta Al-Sarraj, Safa Al-Chalabi, Ammar Leigh, P. Nigel Blair, Ian P. Nicholson, Garth de Belleroche, Jacqueline Gallo, Jean-Marc Miller, Christopher C. Shaw, Christopher E.
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