Phenotypic variation of autosomal-dominant corticobasal degeneration.

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.

journal_name

Eur Neurol

journal_title

European neurology

authors

Jung HH,Bremer J,Streffer J,Virdee K,Spillantini MG,Crowther RA,Brugger P,Van Broeckhoven C,Aguzzi A,Tolnay M

doi

10.1159/000334731

subject

Has Abstract

pub_date

2012-01-01 00:00:00

pages

142-50

issue

3

eissn

0014-3022

issn

1421-9913

pii

000334731

journal_volume

67

pub_type

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