title: 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.
authors.affiliation: Department of Neurology, University Hospital Zurich, Zurich, Switzerland. hans.jung@usz.ch
authors.forename: Hans H
authors.initials: HH
authors.lastname: Jung
authors.forename: Juliane
authors.initials: J
authors.lastname: Bremer
authors.forename: Johannes
authors.initials: J
authors.lastname: Streffer
authors.forename: Kanwar
authors.initials: K
authors.lastname: Virdee
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Spillantini
authors.forename: R Anthony
authors.initials: RA
authors.lastname: Crowther
authors.forename: Peter
authors.initials: P
authors.lastname: Brugger
authors.forename: Christine
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: Adriano
authors.initials: A
authors.lastname: Aguzzi
authors.forename: Markus
authors.initials: M
authors.lastname: Tolnay
mesh_terms: D018888:Aphasia, Primary Progressive / Q000235:genetics / Q000473:pathology / Q000523:psychology; D001480:Basal Ganglia Diseases / Q000235:genetics / Q000473:pathology* / Q000523:psychology; D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009410:Nerve Degeneration / Q000235:genetics / Q000473:pathology* / Q000523:psychology; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D010375:Pedigree; D010641:Phenotype; D013494:Supranuclear Palsy, Progressive / Q000235:genetics / Q000473:pathology / Q000523:psychology; D024801:Tauopathies / Q000235:genetics / Q000473:pathology* / Q000523:psychology