Quick Search:

uzh logo
Browse by:
bullet
bullet
bullet
bullet

Zurich Open Repository and Archive 

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.

[img]Published Version (English)
PDF - Registered users only
1MB

Abstract

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
Language:English
Date:2012
Deposited On:02 Apr 2012 08:16
Last Modified:30 Nov 2013 19:13
Publisher:Karger
ISSN:0014-3022
Publisher DOI:10.1159/000334731
PubMed ID:22261560
Citations:Web of Science®. Times Cited: 2
Google Scholar™
Scopus®. Citation Count: 3

Users (please log in): suggest update or correction for this item

Repository Staff Only: item control page