Leukodystrophies - from diagnosis towards mechanistic understanding and treatment

Thursday May 22 2025

Location: Vrije Universiteit Amsterdam (VU) - Auditorium

From 7.30	Registration
8.30 - 8.45	Opening of the symposium - Marjo van der Knaap

Leukodystrophies: myelin & Oligodendrocytes
Chairs Marianna Bugiani and Nicole Wolf

8.45 - 9.15	Myelination and myelin adaptation - Robin Franklin
9.15 - 9.45	Is myelin essential for normal CNS function - Hauke Werner
9.45 - 10.15	Lack of myelination, causes and consequences - Genevieve Bernard
10.15 - 10.45	Myelin vacuolization in defects in ion and water homeostasis - Rogier Min
10.45 - 11.00	Tea and Coffee
11.00 - 12.30	Free presentation part I
	Candeias: Using non-mammalian models to elucidate the pathology of a novel white matter disorder 15 minutes Triñanes Ramos: VWM conditional mutant mice 15 minutes Lier: Microglial Dysfunction and Iron Dysregulation in ALSP: A Comparative Autopsy Study 10 minutes Plug: Brain slices as model for leukodystrophies 10 minutes Zerem: Impaired heat shock response in iPSCs derived from HIKESHI-related Hypomyelinating Leukodystrophy patients, including a patient with a novel homozygous pathogenic variant 10 minutes Kangas: Role of the heterozygous de novo NACC1 p. Arg298Trp variant in neurodevelopmental disease 10 minutes Triñanes Ramos: A mouse model for LBSL 10 minutes Bisseling: The cytoskeleton in MLC1 10 minutes
12.30 - 13.30	Lunch

Leukodystrophies: astrocytes, microglia & blood vessels
Chairs Genevièbe Bernard and Niek van Til

13.30 - 14.00	Roles of astrocytes essential for white matter health - Alexej Verkhratsky
14.00 - 14.30	Diseases of astrocyte dysfunction - Marianna Bugiani
14.30 - 15.00	What about microglia? - Caroline Bergner
15.00 - 15.30	Let's talk about blood vessels and microangiopathies - Francesco Nicita
15.30 - 16.15	Tea and coffee
16.15 - 17.30	Free presentations part II
	Naik: Deep Phenotyping of Thirty-one cases of Aicardi-Goutières Syndrome 10 minutes Martinez Popple: A case of interferonopathy mimicking Aicardi-Goutières Syndrome caused by biallelic variants of unknown significance in PNPT1. 7.5 minutes Martinez Popple: Beyond CADASIL Syndrome: biallelic NOTCH3 variants in a paediatric patient with leukoencephalopathy, brain calcifications, acquired microcephaly, hemiparesis and autism spectrum disorder 7.5 minutes Harting: Propionic acidemia – a grey matter disease with a characteristic subcortical leukodystrophy 15 minutes Severino: Midbrain-hindbrain malformations in Krabbe disease 10 minutes Vorst: Skull thickening in neurodegenerative disorders 10 minutes Cutillo: Epileptological natural history and electroencephalographic evolution of metachromatic leukodystrophy patients: interim results from a longitudinal study 10 minutes Scifo: Magnetic Resonance study in a cohort of Metachromatic Leukodystrophy children treated with hematopoietic stem cell gene therapy 10 minutes