Phenotypic variation of autosomal-dominant corticobasal degeneration.
Eur Neurol
; 67(3): 142-50, 2012.
Article
en En
| MEDLINE
| ID: mdl-22261560
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades de los Ganglios Basales
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Encéfalo
/
Tauopatías
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Degeneración Nerviosa
Límite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
Eur Neurol
Año:
2012
Tipo del documento:
Article
País de afiliación:
Suiza