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.
|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
|DDC:||570 Life sciences; biology|
610 Medicine & health
|Deposited On:||02 Apr 2012 08:16|
|Last Modified:||30 Nov 2013 19:13|
|Citations:||Web of Science®. Times Cited: 2|
Scopus®. Citation Count: 3
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