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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-57816

Jung, H H; Bremer, J; Streffer, J; Virdee, K; Spillantini, M G; Crowther, R A; Brugger, P; van Broekhoven, C; Aguzzi, A; Tolnay, M (2012). Phenotypic variation of autosomal-dominant corticobasal degeneration. European Neurology, 67(3):142-150.

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Neurodegenerative tauopathies may be inherited as autosomal-dominant disorders with variable clinicopathological phenotypes, and causative mutations in the microtubule-associated protein tau (MAPT) gene are not regularly seen. Herein, we describe a patient with clinically typical and autopsy-proven corticobasal degeneration (CBD). Her mother was diagnosed to have Parkinson's disease, but autopsy showed CBD pathology as in the index patient. The sister of the index patient had the clinical symptoms of primary progressive aphasia (PPA), but no pathology was available to date. Molecular analysis did not reveal any mutation in the MAPT or progranulin (GRN) genes. Our findings illustrate that CBD, progressive supranuclear palsy and PPA may be overlapping diseases with a common pathological basis rather than distinct entities. Clinical presentation and course might be determined by additional, yet unknown, genetic modifying factors.


4 citations in Web of Science®
5 citations in Scopus®
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5 downloads since deposited on 02 Apr 2012
1 download since 12 months

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Clinic for Neurology
04 Faculty of Medicine > University Hospital Zurich > Institute of Neuropathology
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Deposited On:02 Apr 2012 08:16
Last Modified:17 Jun 2016 08:04
Publisher DOI:10.1159/000334731
PubMed ID:22261560

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