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VU Research Portal

Novel brain white matter disorders and their genetic causes

Kevelam, S.H.G.

2016

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citation for published version (APA)

Kevelam, S. H. G. (2016). Novel brain white matter disorders and their genetic causes.

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CoNteNts

Chapter 1 General introduction 9

Part I expansion of the phenotypic spectrum of a known disorder 29 Chapter 2 Altered PLP1 splicing causes hypomyelination of early 31

myelinating structures

Chapter 3 Exome sequencing reveals mutated SLC19A3 in patients 63 with an early-infantile, lethal encephalopathy

Chapter 3.2 Reply: Infantile Leigh-like syndrome caused by 93

SLC19A3 mutations is a treatable disease

Chapter 4 LAMA2 mutations in adult-onset muscular dystrophy with 97 leukoencephalopathy

Chapter 5 Absent thalami caused by a homozygous 103

EARS2 mutation: expanding disease spectrum of LTBL

Part II Novel disease entity associated with a known gene 113 Chapter 6 Novel (ovario)leukodystrophy related to AARS2 mutations 115 Chapter 7 Acute intermittent porphyria-related leukoencephalopathy 145 Chapter 8 Cathepsin A-related arteriopathy with strokes 161

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Part III Novel disorder associated with a gene previously 195 not linked to a human disorder or clear phenotype

Chapter 9 NUBPL mutations in patients with complex I deficiency 197 and a distinct MRI pattern

Chapter 10 Recessive ITPA mutations cause an early-infantile encephalopathy 223 Part IV Update on leukodystrophies 247 Chapter 11 Leukodystrophies: origin, evolution and two revolutions 249 Chapter 12 Summary, discussion and future perspectives 265 Chapter 13 Nederlandse samenvatting 291

Dankwoord 301

List of publications 305

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