A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD
Among patients with frontotemporal lobar degeneration (FTLD), the respective frequencies of dominant 17q21-linked tau-negative FTLD (with unidentified molecular defect) and 17q21-linked tau-positive FTLD (due to MAPT mutations) remain unknown. Here, in a series of 98 genealogically unrelated Belgian FTLD patients, we identified an ancestral 8 cM MAPT containing haplotype in two patients belonging to multiplex families DR2 and DR8, without demonstrable MAPT mutations, in which FTLD was conclusively linked to 17q21 [maximum summed log of the odds (LOD) score of 5.28 at D17S931]. Interestingly, t... Mehr ...
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Dokumenttyp: | TEXT |
Erscheinungsdatum: | 2006 |
Verlag/Hrsg.: |
Oxford University Press
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Schlagwörter: | Original Articles |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26502109 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://brain.oxfordjournals.org/cgi/content/short/129/4/841 |