Peroxisomes are organelles involved in many cellular metabolic functions, including the
degradation of very-long-chain fatty acids (VLCFAs; C≥ 22), the initiation of ether …

Although the pathology of X-linked adrenoleukodystrophy (ALD) is well described, it
represents the end-stage of neurodegeneration. It is still unclear what cell types are initially …

Chronic neuroinflammation and microglial activation are key mediators of the secondary
injury cascades and cognitive impairment that follow exposure to repetitive mild traumatic …

X-linked adrenoleukodystrophy (XALD) is the most common leukodystrophy. It has an
estimated incidence of around 1/17.000, and a variable phenotype. Following the passage …

Cerebral adrenoleukodystrophy (CALD) is an X-linked rapidly progressive demyelinating
disease leading to death usually within a few years. The standard of care is haematopoietic …

Background Mitchell syndrome is a rare, neurodegenerative disease caused by an ACOX1
gain-of-function mutation (c. 710A> G; p. N237S), with fewer than 20 reported cases …

(1) Introduction: This pilot study aimed to analyze neurofilament light chain levels in
cerebrospinal fluid (cNfL) in a cohort of children with different acute nontraumatic …

Abstract Introduction Alexander disease (AxD) is a rare leukodystrophy caused by dominant
gain-of-function mutations in the gene encoding the astrocyte intermediate filament, glial …

Worldwide, thousands of male patients who carry ATP Binding Cassette Subfamily D
Member 1 (ABCD1) mutations develop adrenomyeloneuropathy (AMN) in mid-adulthood, a …

This study presents the longest systematic prospective follow‐up of spinal cord disease in
adult male ALD patients to date. Standardized yearly quantitative data collection included …