Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.

ABSTRACT:

Background

Next generation sequencing studies have revealed an ever-increasing number of causes for genetic disorders of central nervous system white matter. A substantial number of disorders are identifiable from their specific pattern of biochemical and/or imaging findings for which single gene testing may be indicated. Beyond this group, the causes of genetic white matter disorders are unclear and a broader approach to genomic testing is recommended.

Aim

This study aimed to identify the genetic causes for a group of individuals with unclassified white matter disorders with suspected genetic aetiology and highlight the investigations required when the initial testing is non-diagnostic.

Methods

Twenty-six individuals from 22 families with unclassified white matter di

SUBMITTER: Stutterd CA 

PROVIDER: S-EPMC11479680 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature