Advanced search
Publication Cover
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 14, 2013 - Issue 3
Submit an article Journal homepage
830
Views
51
CrossRef citations to date
0
Altmetric
Research Articles

Frontotemporal dementia with amyotrophic lateral sclerosis: A clinical comparison of patients with and without repeat expansions in C9orf72

Julie S. SnowdenManchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford;Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UKCorrespondence[email protected]
,
Jennifer HarrisManchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford;Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
,
Anna RichardsonManchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford;Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
,
Sara RollinsonInstitute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
,
Jennifer C. ThompsonManchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford;Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
,
David NearyManchester Academic Health Sciences Centre, Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal NHS Foundation Trust, Salford;Institute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
,
David M. A. MannInstitute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
&
Stuart Pickering-BrownInstitute of Brain, Behaviour and Mental Health, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK
 show all
Pages 172-176 | Received 31 Oct 2012, Accepted 07 Jan 2013, Published online: 19 Feb 2013

References

  • DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, . Expanded GGGGCC hexanucleotide repeat in non-coding region of C9orf72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011;72:245–56.
  • Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, . A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011;72:257–68.
  • Majounie E, Renton AE, Mok K, Dopper EGP, Waite A, Rollinson S, . Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 2012:11:323–30.
  • Byrne S, Elamin M, Bede P, Shatunov A, Walsh C, Corr B, . Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population based cohort study. Lancet Neurol. 2012;11:232–40.
  • Chio A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, . Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGCC hexanucleotide repeat expansion of C9orf72. Brain. 2012:135:784–93.
  • Millecamps S, Boillee S, Le Ber I, Seilhean D, Teyssou E, Giraudeau M, . Phenotype difference between ALS patients with expanded repeats in C9orf72 and patients with mutations in other ALS-related genes. J Med Genet. 2012;49:258–63.
  • Simon-Sanchez J, Dopper EGP, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, . The clinical and pathological phenotype of C9orf72 hexanucleotide repeat expansions. Brain. 2012;135:723–35.
  • Snowden JS, Rollinson S, Thompson JC, Harris JM, Stopford CL, Richardson AMT, . Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9orf72 mutations. Brain. 2012;135:693–708.
  • Dobson-Stone C, Hallupp M, Bartley L, Shepherd CE, Halliday GM, Schofield PR, . C9orf72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology. 2012;79:995–1001.
  • Snowden JS, Thompson JC, Stopford CL, Richardson AMT, Gerhard A, Neary D, . The clinical diagnosis of early-onset dementias: diagnostic accuracy and clinicopathological relationships. Brain. 2011;134:2478–92.
  • Goldman JS, Farmer JM, Wood EM, Johnson JK, Boxer A, Neuhaus J, . Comparison of family histories in FTLD subtypes and related tauopathies. Neurology. 2005;65: 1817–9.
  • Mackenzie IRA, Neumann M, Bigio E, Cairns NJ, Alafuzoff I, Kril J, . Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. Acta Neuropathol. 2009;117:15–8.
  • Mackenzie IR, Neumann M, Bigio EH, Cairns NJ, Alafuzoff I, Kril J, . Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations. An update. Acta Neuropathol. 2010;119:1–4.
  • Mackenzie IRA, Neumann M, Baborie A,Sampathu, DM, Du Plessis D, Jaros E, . A harmonized classification system for FTLD-TDP pathology. Acta Neuropathol. 2011;122: 111–3.
  • McCombe PA, Henderson RD. Effects of gender in amyotrophic lateral sclerosis. Gend Med. 2010;7:557–70.
  • Rosso SM, Donker Kaat L, Baks T, Joosse M, de Konig I, Pijnenburg Y, . Frontotemporal dementia in the Netherlands: patient characteristics and prevalence estimates. Brain. 2003;126:2016–22.
  • Raaphorst J, Beeldman E, de Visser M, de Haan RJ, Schmand B. A systematic review of the behavioural changes in motor neuron disease. Amyotroph Lateral Scler. 2012;13:493–501.
  • Lillo P, Garcin B, Hornberger M, Bak TH, Hodges JR. Neurobehavioural features in frontotemporal dementia with amyotrophic lateral sclerosis. Arch Neurol. 2011;67:826–30.
  • Katz JS, Katzberg HD, Woolley SC, Marklund SL, Andersen PM. Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation. Amyotroph Lateral Scler. 2012;13:567–9.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.