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Literature DB >> 22483864

Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion.

Elisabet Englund¹, Lars Gustafson, Ulla Passant, Elisa Majounie, Alan E Renton, Bryan J Traynor, Jonathan D Rohrer, Kin Mok, John Hardy.

Abstract

Frontotemporal dementia (FTD) as an important clinical entity was rediscovered in Lund and Manchester in the early 1990s. Here we show that the large Lund pedigree with behavioral variant of frontotemporal dementia previously described with this disorder has an expansion in the recently described C9ORF72 locus on chromosome 9.

Entities: Chemical

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Year: 2012 PMID： 22483864 PMCID： PMC4562220 DOI： 10.1016/j.neurobiolaging.2012.02.019

Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673

18 in total

1. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.

Authors: Mariely DeJesus-Hernandez; Ian R Mackenzie; Bradley F Boeve; Adam L Boxer; Matt Baker; Nicola J Rutherford; Alexandra M Nicholson; NiCole A Finch; Heather Flynn; Jennifer Adamson; Naomi Kouri; Aleksandra Wojtas; Pheth Sengdy; Ging-Yuek R Hsiung; Anna Karydas; William W Seeley; Keith A Josephs; Giovanni Coppola; Daniel H Geschwind; Zbigniew K Wszolek; Howard Feldman; David S Knopman; Ronald C Petersen; Bruce L Miller; Dennis W Dickson; Kevin B Boylan; Neill R Graff-Radford; Rosa Rademakers
Journal: Neuron Date: 2011-09-21 Impact factor: 17.173

2. Familial progressive aphasia: its relationship to other forms of lobar atrophy.

Authors: D Neary; J S Snowden; D M Mann
Journal: J Neurol Neurosurg Psychiatry Date: 1993-10 Impact factor: 10.154

3. Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study.

Authors: Hannu Laaksovirta; Terhi Peuralinna; Jennifer C Schymick; Sonja W Scholz; Shaoi-Lin Lai; Liisa Myllykangas; Raimo Sulkava; Lilja Jansson; Dena G Hernandez; J Raphael Gibbs; Michael A Nalls; David Heckerman; Pentti J Tienari; Bryan J Traynor
Journal: Lancet Neurol Date: 2010-10 Impact factor: 44.182

4. Magnetic resonance imaging and histopathology in dementia, clinically of frontotemporal type.

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Journal: Dement Geriatr Cogn Disord Date: 2000 May-Jun Impact factor: 2.959

5. Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Authors: Vivianna M Van Deerlin; Patrick M A Sleiman; Maria Martinez-Lage; Alice Chen-Plotkin; Li-San Wang; Neill R Graff-Radford; Dennis W Dickson; Rosa Rademakers; Bradley F Boeve; Murray Grossman; Steven E Arnold; David M A Mann; Stuart M Pickering-Brown; Harro Seelaar; Peter Heutink; John C van Swieten; Jill R Murrell; Bernardino Ghetti; Salvatore Spina; Jordan Grafman; John Hodges; Maria Grazia Spillantini; Sid Gilman; Andrew P Lieberman; Jeffrey A Kaye; Randall L Woltjer; Eileen H Bigio; Marsel Mesulam; Safa Al-Sarraj; Claire Troakes; Roger N Rosenberg; Charles L White; Isidro Ferrer; Albert Lladó; Manuela Neumann; Hans A Kretzschmar; Christine Marie Hulette; Kathleen A Welsh-Bohmer; Bruce L Miller; Ainhoa Alzualde; Adolfo Lopez de Munain; Ann C McKee; Marla Gearing; Allan I Levey; James J Lah; John Hardy; Jonathan D Rohrer; Tammaryn Lashley; Ian R A Mackenzie; Howard H Feldman; Ronald L Hamilton; Steven T Dekosky; Julie van der Zee; Samir Kumar-Singh; Christine Van Broeckhoven; Richard Mayeux; Jean Paul G Vonsattel; Juan C Troncoso; Jillian J Kril; John B J Kwok; Glenda M Halliday; Thomas D Bird; Paul G Ince; Pamela J Shaw; Nigel J Cairns; John C Morris; Catriona Ann McLean; Charles DeCarli; William G Ellis; Stefanie H Freeman; Matthew P Frosch; John H Growdon; Daniel P Perl; Mary Sano; David A Bennett; Julie A Schneider; Thomas G Beach; Eric M Reiman; Bryan K Woodruff; Jeffrey Cummings; Harry V Vinters; Carol A Miller; Helena C Chui; Irina Alafuzoff; Päivi Hartikainen; Danielle Seilhean; Douglas Galasko; Eliezer Masliah; Carl W Cotman; M Teresa Tuñón; M Cristina Caballero Martínez; David G Munoz; Steven L Carroll; Daniel Marson; Peter F Riederer; Nenad Bogdanovic; Gerard D Schellenberg; Hakon Hakonarson; John Q Trojanowski; Virginia M-Y Lee
Journal: Nat Genet Date: 2010-02-14 Impact factor: 38.330

6. Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia.

Authors: Katya Rascovsky; John R Hodges; David Knopman; Mario F Mendez; Joel H Kramer; John Neuhaus; John C van Swieten; Harro Seelaar; Elise G P Dopper; Chiadi U Onyike; Argye E Hillis; Keith A Josephs; Bradley F Boeve; Andrew Kertesz; William W Seeley; Katherine P Rankin; Julene K Johnson; Maria-Luisa Gorno-Tempini; Howard Rosen; Caroline E Prioleau-Latham; Albert Lee; Christopher M Kipps; Patricia Lillo; Olivier Piguet; Jonathan D Rohrer; Martin N Rossor; Jason D Warren; Nick C Fox; Douglas Galasko; David P Salmon; Sandra E Black; Marsel Mesulam; Sandra Weintraub; Brad C Dickerson; Janine Diehl-Schmid; Florence Pasquier; Vincent Deramecourt; Florence Lebert; Yolande Pijnenburg; Tiffany W Chow; Facundo Manes; Jordan Grafman; Stefano F Cappa; Morris Freedman; Murray Grossman; Bruce L Miller
Journal: Brain Date: 2011-08-02 Impact factor: 13.501

7. A harmonized classification system for FTLD-TDP pathology.

Authors: Ian R A Mackenzie; Manuela Neumann; Atik Baborie; Deepak M Sampathu; Daniel Du Plessis; Evelyn Jaros; Robert H Perry; John Q Trojanowski; David M A Mann; Virginia M Y Lee
Journal: Acta Neuropathol Date: 2011-06-05 Impact factor: 17.088

8. Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study.

Authors: Aleksey Shatunov; Kin Mok; Stephen Newhouse; Michael E Weale; Bradley Smith; Caroline Vance; Lauren Johnson; Jan H Veldink; Michael A van Es; Leonard H van den Berg; Wim Robberecht; Philip Van Damme; Orla Hardiman; Anne E Farmer; Cathryn M Lewis; Amy W Butler; Olubunmi Abel; Peter M Andersen; Isabella Fogh; Vincenzo Silani; Adriano Chiò; Bryan J Traynor; Judith Melki; Vincent Meininger; John E Landers; Peter McGuffin; Jonathan D Glass; Hardev Pall; P Nigel Leigh; John Hardy; Robert H Brown; John F Powell; Richard W Orrell; Karen E Morrison; Pamela J Shaw; Christopher E Shaw; Ammar Al-Chalabi
Journal: Lancet Neurol Date: 2010-10 Impact factor: 44.182

9. Chromosome 9 ALS and FTD locus is probably derived from a single founder.

Authors: Kin Mok; Bryan J Traynor; Jennifer Schymick; Pentti J Tienari; Hannu Laaksovirta; Terhi Peuralinna; Liisa Myllykangas; Adriano Chiò; Aleksey Shatunov; Bradley F Boeve; Adam L Boxer; Mariely DeJesus-Hernandez; Ian R Mackenzie; Adrian Waite; Nigel Williams; Huw R Morris; Javier Simón-Sánchez; John C van Swieten; Peter Heutink; Gabriella Restagno; Gabriele Mora; Karen E Morrison; Pamela J Shaw; Pamela Sara Rollinson; Ammar Al-Chalabi; Rosa Rademakers; Stuart Pickering-Brown; Richard W Orrell; Michael A Nalls; John Hardy
Journal: Neurobiol Aging Date: 2011-09-16 Impact factor: 4.673

10. Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations.

Authors: Stuart M Pickering-Brown; Sara Rollinson; Daniel Du Plessis; Karen E Morrison; Anoop Varma; Anna M T Richardson; David Neary; Julie S Snowden; David M A Mann
Journal: Brain Date: 2008-01-11 Impact factor: 13.501

3 in total