208
Views
8
CrossRef citations to date
0
Altmetric
SHORT REPORT

Co-occurrence of progressive anarthria with an S393L TARDBP mutation and ALS within a family

, , , &
Pages 155-157 | Received 14 Apr 2011, Accepted 14 Jun 2011, Published online: 11 Aug 2011

References

  • Seelaar H, Rohrer JD, Pijnenburg YA, Fox NC, van Swieten JC. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry. 2011;82:476–86.
  • Deramecourt V, Lebert F, Debachy B, Mackowiak-Cordoliani MA, Bombois S, Kerdraon O, . Prediction of pathology in primary progressive language and speech disorders. Neurology. 2010;74:42–9.
  • Tyrell PJ, Kartsounis RS, Frackowiak J, Findley LJ, Rossor MN. Progressive loss of speech output and orofacial dyspraxia associated with frontal lobe hypometabolism. J Neurol Neurosurg Psychiatry. 1991;54:351–7.
  • 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.
  • Origone P, Caponnetto C, Bandettini Di Poggio M, Ghiglione E, Bellone E, Ferrandes G, . Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling. Amyotroph Lateral Scler. 2010;11:223–7.
  • Corrado L, Ratti A, Gellera C, Buratti E, Castellotti B, Carlomagno Y, . High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis. Hum Mutat. 2009;30:688–94.
  • Benajiba L, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, Couratier P, . TARDBP mutations in motor neuron disease with frontotemporal lobar degeneration. Ann Neurol. 2009;65:470–3.
  • Rohrer JD, Rossor MN, Warren JD. Syndromes of non-fluent primary progressive aphasia: a clinical and neurolinguistic analysis. Neurology. 2010;75:603–10.
  • Josephs KA, Duffy JR, Strand EA, Whitwell JL, Layton KF, Parisi JE, . Clinicopathological and imaging correlates of progressive aphasia and apraxia of speech. Brain. 2006;129:1385–98.
  • Otuki M, Nakagawa Y, Mori F, Tobioka H, Yoshida H, Tatezawa Y, . Progressive anterior operculum syndrome due to FTLD-TDP: a clinicopathological investigation. J Neurol. 2010;257:1148–53.
  • Arai T, Hasegawa M, Akiyama H, Ikeda K, Nonaka T, Mori H, . TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Biochem Biophys Res Commun. 2006;351:602–11.
  • Lucchelli F, Papagno C. Is slowly progressive anarthria a ‘pure’ motor-speech disorder? Evidence from writing performance. Neurocase. 2005;11:234–41.

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.