The natural history of infantile neuroaxonal dystrophy.

ABSTRACT:

Background

Infantile neuroaxonal dystrophy (INAD) is a rapidly progressive neurodegenerative disorder of early onset causing premature death. It results from biallelic pathogenic variants in PLA2G6, which encodes a calcium-independent phospholipase A2.

Objective

We aim to outline the natural history of INAD and provide a comprehensive description of its clinical, radiological, laboratory, and molecular findings.

Materials and methods

We comprehensively analyzed the charts of 28 patients: 16 patients from Riyadh, Saudi Arabia, 8 patients from North and South America and 4 patients from Europe with a molecularly confirmed diagnosis of PLA2G6-associated neurodegeneration (PLAN) and a clinical history consistent with INAD.

Results

In our cohort, speech impairment a

SUBMITTER: Altuame FD 

PROVIDER: S-EPMC7193406 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature