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Article

A novel phenotype in an Italian family with a rare progranulin mutation.

Journal of neurology - 1 Nov 2022

Russillo Maria Claudia, Sorrentino Cristiano, Scarpa Alfonso, Vinciguerra Claudia, Cicarelli Giulio, Cuoco Sofia, Gagliardi Monica, Talarico Mariagrazia, Procopio Radha, Quattrone Andrea, Barone Paolo, Pellecchia Maria Teresa

Abstract excerpt

INTRODUCTION: Progranulin (PGRN) is a secreted glycoprotein encoded in humans by the GRN gene, located on chromosome 17q21. Several nonsense and missense pathogenetic GRN mutations have been described. OBJECTIVE: We herein describe two sisters carrying a rare GRN mutation with extremely different clinical features and family history of dementia and behavioral disorders, with a novel presentation with stridor and...

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Identifiers

PMID: 35859258
DOI: 10.1007/s00415-022-11285-7
PMCID: PMC9553792

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