Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP

Morris, Huw, Osaki, Y., Holton, J., Lees, A.J., Wood, N.W., Revesz, T. and Quinn, N. 2003. Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP. Neurology 61 (1) , pp. 102-104. 10.1212/01.WNL.0000072325.27824.A5

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Abstract

The authors describe a case of clinically diagnosed young onset progressive supranuclear palsy (PSP) with symptom onset at 40 years of age and no family history of neurodegenerative disease. There was no history of falls during the first year of symptoms. Genetic analysis identified this patient as having a tau exon 10 +16 mutation (MAPT, IVS10, C-U, +16). Neuropathologic examination confirmed the genetic diagnosis of frontotemporal dementia. An age at onset younger than 50 years combined with the absence of early falls may indicate the possibility of a tau mutation in clinically diagnosed PSP.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG) Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Lippincott Williams & Wilkins
ISSN:	0028-3878
Last Modified:	24 Nov 2015 14:11
URI:	https://orca.cardiff.ac.uk/id/eprint/82108

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