Publications

Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research

This study reports outcomes of hematopoietic stem cell transplantation (HSCT) in an international cohort of patients with CSF1R-related disorder, a rare adult-onset leukoencephalopathy characterized by progressive neurodegeneration. The results suggest that HSCT may stabilize or slow disease progression in selected patients, particularly when performed at an early stage, although responses are variable. The study highlights […]

Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.

This study reports outcomes of hematopoietic stem cell transplantation (HSCT) in an international cohort of patients with CSF1R-related disorder, a rare adult-onset leukoencephalopathy characterized by progressive neurodegeneration. The results suggest that HSCT may stabilize or slow disease progression in selected patients, particularly when performed at an early stage, although responses are variable. The study highlights the importance of careful patient selection, timing of intervention, and multidisciplinary evaluation, while also emphasizing the need for further data to better define efficacy and long-term outcomes.

Therapy advancements in metachromatic leukodystrophy

This review summarizes recent advances in metachromatic leukodystrophy, highlighting improved understanding of disease progression, variability of clinical presentation, and the importance of early treatment. It emphasizes that therapies such as stem cell transplantation and gene therapy are most effective before symptom onset, supporting the development of newborn screening, while noting ongoing challenges in treatment timing, patient selection, and access to care.

Adrenoleukodystrophy: A Promising Drug

In this study, we tested a new treatment, leriglitazone, in 116 men with adrenomyeloneuropathy as part of a randomized, placebo-controlled trial.

Diagnostic Approach for Adult Metabolic Leukodystrophy

Metabolic leukodystrophies should be considered in all patients with patterns of white matter abnormalities that are not evocative of an inflammatory or vascular process. Metabolic leukodystrophies typically present with bilateral and symmetrical white matter involvement, either fascicular or confluent. Biochemical analyses should be conducted as first-line investigations, including blood tests for cholestanol, homocysteine, very long-chain […]

Key Elements of Diagnosis and Treatment for Men with X-Linked Adrenoleukodystrophy

X-linked adrenoleukodystrophy (ALD), caused by pathogenic variants in the ABCD1 gene, is a neurodegenerative disease associated with adrenal insufficiency. The biochemical marker of the disease is the increase of very long-chain fatty acid plasma levels. Although ALD is a rare disease (with an incidence of 1 in 17,000 births), it is the most common leukodystrophy in males across all age groups.

Adrenoleukodystrophy: Leriglitazone Halts Early Cerebral Forms

In this study, we demonstrate that leriglitazone can stop neuroinflammation and halt disease progression in most men with cerebral adrenoleukodystrophy.

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management.

Laugwitz L, Schoenmakers DH, Adang LA, Beck-Woedl S, Bergner C, Bernard G, Bley A, Boyer A, Calbi V, Dekker H, Eichler F, Eklund E, Fumagalli F, Gavazzi F, Grønborg SW, van Hasselt P, Langeveld M, Lindemans C, Mochel F, Oberg A, Ram D, Saunier-Vivar E, Schöls L, Scholz M, Sevin C, Zerem A, Wolf NI, Groeschel S.

Eur J Paediatr Neurol. 2024 Mar;49:141-154. doi: 10.1016/j.ejpn.2024.03.003. Epub 2024 Mar 9. PMID: 38554683.

Expert opinion on diagnosing and treating patients with cerebrotendinous xanthomatosis.

Using a modified Delphi approach, expert consensus supported genetic testing, serum cholestanol measurement, and early initiation of chenodeoxycholic acid as key to improving outcomes.

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.

This publication contains key information for the management of patients diagnosed with adrenoleukodystrophy. Its ultimate goal is to enable early diagnosis of the cerebral form of the disease.

Diagnosis, prognosis, and treatment of leukodystrophies

This review provides support for the diagnosis of leukodystrophies through brain imaging, metabolic biomarkers, and genetic testing, while also addressing the main classification frameworks of these diseases and the principles of their treatment.