Neumann, Manuela

RERO DOC Digital Library

BRAINA JOURNAL OF NEUROLOGYLETTER TO THE EDITORReply: Very early-onset frontotemporal dementia with no family history predictsunderlying fused in sarcoma pathologyManuela NeumannInstitute of Neuropathology, University Hospital of Zurich, Schmelzbergstr. 12, CH-8091 Zurich, SwitzerlandCorrespondence to: Manuela Neumann,Institute of Neuropathology,University Hospital of Zurich,Schmelzbergstr. 12CH-8091 Zurich, SwitzerlandE-mail: manuela.neumann@usz.chSir, cases previously described as atypical frontotemporal lobardegeneration with ubiquitinated inclusions (FTLD-U) were recentlyfound to be characterized by FUS pathology (Neumann et al.,2009). As described in this article and in the initial papers introdu-cing the term atypical FTLD-U (Mackenzie et al., 2008; Roeberet al., 2008) as well as in more recent papers (Seelaar et al., 2010;Urwin et al., 2010), the clinical phenotype of these cases is char-acterized by a very early age at onset with absence of familyhistory for dementias.Loy et al. (2010) used the criterion of early age at onset (540years), in the absence of family history, to screen their 64 BrainBank cases with FTLD and identified one case meeting this criter-ion and, indeed, this case showed FUS pathology.This report consolidates that there is a characteristic clinicalphenotype in FTLD-FUS (atypical FTLD-U) and that the alreadypublished clinical features are highly suggestive for FTLD-FUS(atypical FTLD-U).However, to prove the usefulness (sensitivity/specificity) of theseclinical features as predictors for FTLD-FUS (atypical FTLD-U) itwould have been interesting to know whether FUS pathologywas also present in any of the other 63 cases in their cohort.ReferencesLoy C, McCusker E, Kril JJ, Kwok JB, Brooks WS, McCann H, et al. Veryearly-onset frontotemporal dementia with no family history predictsunderlying fused in sarcoma pathology. Brain 2010.Mackenzie IR, Foti D, Woulfe J, Hurwitz TA. Atypical frontotemporallobar degeneration with ubiquitin-positive, TDP-43-negative neuronalinclusions. Brain 2008; 131: 1282–93.Neumann M, Rademakers R, Roeber S, Baker M, Kretzschmar HA,Mackenzie IR. A new subtype of frontotemporal lobar degenerationwith FUS pathology. Brain 2009; 132: 2922–31.Roeber S, Mackenzie IR, Kretzschmar HA, Neumann M. TDP-43-negative FTLD-U is a significant new clinico-pathological subtype ofFTLD. Acta Neuropathol 2008; 116: 147–57.Seelaar H, Klijnsma KY, de Koning I, van der Lugt A, Chiu WZ, Azmani A,et al. Frequency of ubiquitin and FUS-positive, TDP-43-negative fron-totemporal lobar degeneration. J Neurol 2010; 257: 747–53.Urwin H, Josephs KA, Rohrer JD, Mackenzie IR, Neumann M, Authier A,et al. FUS pathology defines the majority of tau- and TDP-43-negativefrontotemporal lobar degeneration. Acta Neuropathol 2010; 120:33–41.doi:10.1093/brain/awq189 Brain 2010: 133; 1–1 | e159Advance Access publication August 9, 2010 The Author (2010). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved.For Permissions, please email: journals.permissions@oxfordjournals.org

Reply: Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology

Abstract

Similar works

Full text

Available Versions

RERO DOC Digital Library