212
Views
7
CrossRef citations to date
0
Altmetric
Research Article

Clinical and electrophysiologic variability in amyotrophic lateral sclerosis within a kindred harboring the C9ORF72 repeat expansion

, , , , , , , , , , , , , , & show all
Pages 132-137 | Received 29 May 2012, Accepted 21 Aug 2012, Published online: 04 Oct 2012

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.
  • Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, . Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neurol. 2011;122:673–90.
  • Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, . Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. J Neurol Neurosurg Psychiatry. 2011;82:196–203.
  • Gijselinck I, Engelborghs S, Maes G, Cuijt I, Peeters K, Mattheijssens M, . Identification of 2 loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Arch Neurol. 2010;67:606–16.
  • Le Ber I, Camuzat A, Berger E, Hannequin D, Laquerriere A, Golfier V, . Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease. Neurology. 2009;72:1669–76.
  • Luty AA, Kwok JB, Thompson EM, Blumbergs P, Brooks WS, Loy CT, . Pedigree with frontotemporal lobar degeneration: motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol. 2008;8:32.
  • Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, . Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol. 2006; 6:44.
  • Morita M, Al-Chalabi A, Andersen PM, Hosler B, Sapp P, Englund E, . A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia. Neurology. 2006;66:839–44.
  • Pearson JP, Williams NM, Majounie E, Waite A, Stott J, Newsway V, . Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol. 2011;258:647–55.
  • Valdmanis PN, Dupre N, Bouchard JP, Camu W, Salachas F, Meininger V, . Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p. Arch Neurol. 2007;64: 240–5.
  • Vance C, Al-Chalabi A, Ruddy D, Smith BN, Hu X, Sreedharan J, . Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13. 2-21. 3. Brain. 2006;129:868−76.
  • Stewart H, Rutherford NJ, Briemberg H, Krieger C, Cashman N, Fabros M, . Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p. Acta Neurol. 2012;123: 409–17.
  • Chio A, Borghero G, Restagno G, Mora G, Drepper C, Traynor BJ, . Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain. 2012;135:784–93.
  • Brooks BR, Miller RG, Swash M, Munsat TL. El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2000;1:293–9.
  • Neary D, Snowden JS, Gustafson L, Passant U, Stuss D, Black S, . Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria. Neurology. 1998;51:1546–54.
  • Rascovsky K, Hodges JR, Knopman D, Mendez MF, Kramer JH, Neuhaus J, . Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia. Brain. 2011;134:2456–77.
  • Baker M, Mackenzie IR, Pickering-Brown SM, Gass J, Rademakers R, Lindholm C, . Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature. 2006;442:916–9.
  • Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, . Association of missense and 5’-splice-site mutations in tau with the inherited dementia FTDP-17. Nature. 1998;393:702–5.
  • Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, . Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLOS Genet. 2008;4:e1000193.
  • Boeve BF, Boylan KB, Graff-Radford NR, Dejesus-Hernandez M, Knopman DS, Pedraza O, . Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain. 2012;135:765–83.
  • Josephs KA, Parisi JE, Knopman DS, Boeve BF, Petersen RC, Dickson DW. Clinically undetected motor neuron disease in pathologically proven frontotemporal lobar degeneration with motor neuron disease. Arch Neurol. 2006;63: 506–12.
  • Josephs KA, Stroh A, Dugger B, Dickson DW. Evaluation of subcortical pathology and clinical correlations in FTLD-U subtypes. Acta Neurol. 2009;118:349–58.
  • Logroscino G, Traynor BJ, Hardiman O, Chio A, Mitchell D, Swingler RJ, . Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry. 2010;81: 385–90.
  • Laaksovirta H, Peuralinna T, Schymick JC, Scholz SW, Lai SL, Myllykangas L, . Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study. Lancet Neurol. 2010;9:978–85.
  • Mok K, Traynor BJ, Schymick J, Tienari PJ, Laaksovirta H, Peuralinna T, . Chromosome 9 ALS and FTD locus is probably derived from a single founder. Neurobiol Aging. 2012;33:209 e3−8.
  • Agrawal S, Desai MP. Simultaneous occurrence of type 1 diabetes mellitus and juvenile rheumatoid arthritis. Indian Pediatr. 2003;40:568–71.

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:

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:

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.