TDP-43 in the hypoglossal nucleus identifies amyotrophic lateral sclerosis in behavioral variant frontotemporal dementia

Halliday, Glenda M., Kiernan, Matthew C., Kril, Jillian J., Mito, Remika, Masuda-Suzukake, Masami, Hasegawa, Masato, McCann, Heather, Bartley, Lauren, Dobson-Stone, Carol, Kwok, John B.J., Hornberger, Michael, Hodges, John R. and Tan, Rachel H. (2016) TDP-43 in the hypoglossal nucleus identifies amyotrophic lateral sclerosis in behavioral variant frontotemporal dementia. Journal of the Neurological Sciences, 366. pp. 197-201. ISSN 0022-510X

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The hypoglossal nucleus was recently identified as a key brain region in which the presence of TDP-43 pathology could accurately discriminate TDP-43 proteinopathy cases with clinical amyotrophic lateral sclerosis (ALS). The objective of the present study was to assess the hypoglossal nucleus in behavioral variant frontotemporal dementia (bvFTD), and determine whether TDP-43 in this region is associated with clinical ALS. Twenty-nine cases with neuropathological FTLD-TDP and clinical bvFTD that had not been previously assessed for hypoglossal TDP-43 pathology were included in this study. Of these 29 cases, 41% (n = 12) had a dual diagnosis of bvFTD-ALS at presentation, all 100% (n = 12) of which demonstrated hypoglossal TDP-43 pathology. Of the 59% (n = 17) cohort that presented with pure bvFTD, 35% (n = 6) were identified with hypoglossal TDP-43 pathology. Review of the case files of all pure bvFTD cases revealed evidence of possible or probable ALS in 5 of the 6 hypoglossal-positive cases (83%) towards the end of disease, and this was absent from all cases without such pathology. In conclusion, the present study validates grading the presence of TDP-43 in the hypoglossal nucleus for the pathological identification of bvFTD cases with clinical ALS, and extends this to include the identification of cases with possible ALS at end-stage.

Item Type: Article
Uncontrolled Keywords: amyotrophic lateral sclerosis,behavioral variant frontotemporal dementia,tdp-43,hypoglossal nucleus
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
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Depositing User: Pure Connector
Date Deposited: 23 Sep 2016 23:56
Last Modified: 12 Jun 2021 07:42
DOI: 10.1016/j.jns.2016.05.005

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