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Article

Clinical and Molecular Characterization of a Novel Progranulin Deletion Associated with Different Phenotypes.

Journal of Alzheimer's disease : JAD - 1 Jan 2020

Picillo Marina, Vitale Emilia, Rendina Antonella, Donizetti Aldo, Aliperti Vincenza, Tepedino Maria Francesca, Dati Giovanna, Ginevrino Monia, Valente Enza Maria, Barone Paolo

Abstract excerpt

BACKGROUND: Mutations in the GRN gene are causative for an autosomal dominant form of frontotemporal dementia. OBJECTIVE/METHODS: The objective of the present study is to describe clinical and molecular features of three siblings harboring the GRN deletion NM_002087.3:c.295_308delTGCCCACGGGGCTT, p.(Cys99Profs*15) identified with next generation sequencing. RESULTS: Our patients demonstrated heterogeneous clinical...

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PMID: 32474471
DOI: 10.3233/JAD-200151

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