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

ABSTRACT:

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 dysphonia.

Methods

Patients underwent a multidimensional assessment including neurological and neuropsychological evaluation, structural and functional imaging, and genetic screening.

Results

The younger sister presented at the age of 64 with inspiratory stridor, dysphonia and exercise-induced dyspnea. Transnasal fiberoptic laryngoscopy showed bilateral a

SUBMITTER: Russillo MC 

PROVIDER: S-EPMC9553792 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature