Advanced search
Publication Cover
Amyotrophic Lateral Sclerosis Volume 13, 2012 - Issue 5
Journal homepage
333
Views
11
CrossRef citations to date
0
Altmetric
Research Article

A novel TARDBP insertion/deletion mutation in the flail arm variant of amyotrophic lateral sclerosis

Jennifer A. SolskiNorthcott Neuroscience Laboratory, ANZAC Research Institute
,
Shu YangNorthcott Neuroscience Laboratory, ANZAC Research Institute
,
Garth A. NicholsonNorthcott Neuroscience Laboratory, ANZAC Research Institute;Sydney Medical School, University of Sydney;Molecular Medicine Laboratory, Concord Hospital, Sydney, Australia
,
Natasha LuquinSydney Medical School, University of Sydney
,
Kelly L. WilliamsNorthcott Neuroscience Laboratory, ANZAC Research Institute;Sydney Medical School, University of Sydney
,
Ruvini FernandoNorthcott Neuroscience Laboratory, ANZAC Research Institute
,
Roger PamphlettSydney Medical School, University of Sydney
&
Ian P. BlairNorthcott Neuroscience Laboratory, ANZAC Research Institute;Sydney Medical School, University of SydneyCorrespondence[email protected]
 show all
Pages 465-470 | Received 04 Jan 2012, Accepted 29 Jan 2012, Published online: 16 Mar 2012

References

  • Wijesekera LC, Mathers S, Talman P, Galtrey C, Parkinson MH, Ganesalingam J, . Natural history and clinical features of the flail arm and flail leg ALS variants. Neurology. 2009;72:1087−94.
  • Ticozzi N, Tiloca C, Morelli C, Colombrita C, Poletti B, Doretti A, . Genetics of familial amyotrophic lateral sclerosis. Arch Ital Biol. 2011;149:65−82.
  • 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, Simón-Sánchez 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.
  • Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, . Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science. 2006;314:130−3.
  • Warraich ST, Yang S, Nicholson GA, Blair IP. TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases. Int J Biochem Cell Biol. 2010;42:1606−9.
  • Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, . TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science. 2008;319:1668−72.
  • Williams KL, Durnall JC, Thoeng AD, Warraich ST, Nicholson GA, Blair IP. A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred. J Neurol Neurosurg Psychiatry. 2009;80:1286−8.
  • Hu MT, Ellis CM, Al-Chalabi A, Leigh PN, Shaw CE. Flail arm syndrome: a distinctive variant of amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 1998;65:950−1.
  • Czaplinski A, Steck AJ, Andersen PM, Weber M. Flail arm syndrome: a clinical variant of amyotrophic lateral sclerosis. Eur J Neurol. 2004;11:567−8.
  • Vucic S, Kiernan MC. Abnormalities in cortical and peripheral excitability in flail arm variant amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2007;78:849−52.
  • Conforti FL, Sproviero W, Simone IL, Mazzei R, Valentino P, Ungaro C, . TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2010;82:587−8.
  • Quadri M, Cossu G, Saddi V, Simons EJ, Murgia D, Melis M, . Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia. Neurogenetics. 2011;12:203−9.
  • Mackenzie IR, Rademakers R, Neumann M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol. 2010;9:995−1007.
  • Rutherford NJ, Finch NA, Dejesus-Hernandez M, Crook RJ, Lomen-Hoerth C, Wszolek ZK, . Pathogenicity of exonic indels in fused-in sarcoma in amyotrophic lateral sclerosis. Neurobiol Aging. 2012;33:23−4.
  • Yan J, Deng HX, Siddique N, Fecto F, Chen W, Yang Y, . Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia. Neurology. 2010; 75:807−14.
  • Fecto F, Siddique T. Making connections: pathology and genetics link amyotrophic lateral sclerosis with frontotemporal lobe dementia. J Mol Neurosci. 2011;45:663−75.
  • Blair IP, Williams KL, Warraich ST, Durnall JC, Thoeng AD, Manavis J, . FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. J Neurol Neurosurg Psychiatry. 2010;81:639−45.
  • Kühnlein P, Sperfeld AD, Vanmassenhove B, van Deerlin V, Lee VM, Trojanowski JQ, . Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations. Arch Neurol. 2008;65:1185−9.
  • van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, . TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis. Lancet Neurol. 2008;4:409–16.
  • Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, . Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene. Arch Neurol. 2011;68:594−8.
  • Kirby J, Goodall EF, Smith W, Highley JR, Masanzu R, Hartley JA, . Broad clinial phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis. Neurogenetics. 2010;11:217−25.

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.