Living with primary brain calcification with PDGFB variants: A qualitative study.

ABSTRACT:

Introduction

Primary brain calcification (PBC) is a rare and intractable neurodegenerative disease. SLC20A2 and PDGFB are two major causative genes. As there is no effective treatment to avoid further progression or to prevent the onset of the disease, the patients may experience psychological distress. There is a qualitative study on the experiences of patients with primary brain calcification with SLC20A2 variants. However, the experiences of patients with PDGFB variants of the disease have not been explored. The purpose of this study is to identify the experiences of patients with PDGFB variants after diagnosis.

Materials and methods

Semi-structured interviews were conducted once or twice a year for three years with five patients over the age of 21. The data were analyzed

SUBMITTER: Takeuchi T 

PROVIDER: S-EPMC9543980 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature