Estimation of Ambulation and Survival in Neurodegeneration with Brain Iron Accumulation Disorders.

ABSTRACT:

Background

Neurodegeneration with Brain Iron Accumulation (NBIA) disorder is a group of ultra-orphan hereditary diseases with very limited data on its course.

Objectives

To estimate the probability of preserving ambulatory ability and survival in NBIA.

Methods

In this study, the electronic records of the demographic data and clinical assessments of NBIA patients from 2012 to 2023 were reviewed. The objectives of the study and factors impacting them were investigated by Kaplan-Meier and Cox regression methods.

Results

One hundred and twenty-two genetically-confirmed NBIA patients consisting of nine subtypes were enrolled. Twenty-four and twenty-five cases were deceased and wheelchair-bound, with a mean disease duration of 11 ± 6.65 and 9.32 ± 5 years. The probab

SUBMITTER: Amini E 

PROVIDER: S-EPMC10828622 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature