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Actualité : Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research
Publications
· 7 April 2026

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 […]
Actualité : Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.
Publications
· 7 September 2025

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.
Actualité : Therapy advancements in metachromatic leukodystrophy
Publications
· 5 May 2025

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.
Actualité : Diagnostic Approach for Adult Metabolic Leukodystrophy
Publications
· 11 December 2024

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 […]
Actualité : Key Elements of Diagnosis and Treatment for Men with X-Linked Adrenoleukodystrophy
Publications
· 11 December 2024

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.
Actualité : Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management.
Publications
· 7 April 2024

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

This article presents European expert consensus recommendations for the management of patients identified through newborn screening for metachromatic leukodystrophy (MLD), a rare neurodegenerative lysosomal disorder. Because treatments such as hematopoietic stem cell transplantation and gene therapy are effective mainly at a pre-symptomatic stage, early detection is critical. Using a Delphi methodology, the authors define guidance on diagnostic confirmation, monitoring, timing of treatment, and long-term follow-up. The study emphasizes that newborn screening must be coupled with rapid, structured clinical decision-making to optimize patient outcomes.
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