Publications

· 7 April 2026

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

Yska HAF, Golse M, Beerepoot S, Hayer S, Bergner C, de Paiva ARB, Marelli C, Palacios NJ, Osorio YL, Huiban C, Franke G, Wortmann F, Holtick U, Ayrignac X, van der Knaap MS, Schöls L, Perlbarg V, Galanaud D, de Witte MA, Wolf NI, Nguyen S, Mochel F; and the International CSF1R‐RD Working Group.

Mov Disord. 2025 Sep;40(9):1826-1835. doi: 10.1002/mds.30282. Epub 2025 Jul 11. PMID: 40646711; PMCID: PMC12485588.

Publications

· 7 April 2026

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

Yska HAF, Golse M, Galanaud D, Amartino HM, Bergner C, Bruschi F, Eichler FS, Fatemi A, García-Cazorla À, Gomez-Chiari M, Köhler W, Loes D, Lund T, Mallack EJ, Moscatelli M, Musolino PL, Nascene DR, Orthmann-Murphy JL, Parazzini C, Pouwels PJW, Ribeiro-Constante J, Roosendaal SD, Salsano E, Sgobbi PV, Sevin C, Smith Fine A, Tonduti D, Van Haren K, Zerem A, Engelen M, Mochel F.

Neurology. 2026 Mar 10;106(5):e214657. doi: 10.1212/WNL.0000000000214657. Epub 2026 Feb 6. PMID: 41650360; PMCID: PMC12893433.

Publications

· 7 April 2026

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

Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelmann MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund TC, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC.

Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29. PMID: 36175155.

Publications

· 7 April 2026

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.

MediaPublications

· 11 December 2024

Lessons from Adult Metabolic Medicine

In this podcast, Professor Mochel emphasizes the importance of a dialogue between pediatricians and adult physicians for the understanding and management of inherited metabolic diseases and leukodystrophies.

Publications

· 11 December 2024

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.

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 […]

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.

Publications

· 11 December 2024

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.