Inherited White Matter Disorders and Their Mimics

Section I. Introduction
1. Neuroanatomy & Neuropathology of White Matter Disorders
2. Cell biology of myelin
3. Approaches to diagnosis in WMD
4. MRI pattern recognition in white matter disease

Section II. Inherited Disorders
5. Mitochondrial Disorders
6. Vanishing White Matter Disease
7. Disorders with calcification in childhood
8. Disorders with calcification or brain iron accumulation in adulthood
9. Adrenoleukodystrophy
10. Other peroxisomal disorders
11. Lysosomal storage disorders
12. Amino Acidopathies and Organic Acid Disorders
13. Hypomyelination (Myelin Disorders)
14. Rare forms of hypomyelination and delayed myelination
15. Chromosomal disorders
16. Very rare orphan disorders of childhood
17. tRNA synthetases
18. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
19. Monogenic small vessel disease
20. Amyloid related disorders
21. Disorders with prominent posterior fossa involvement

Section III. Treatments
22. General approach to treatment of genetic leukoencephalopathies in children and adults
23. Haematopoetic stem cell transplant
24. Gene therapy

Section IV. Acquired Disorders
25. Acquired vascular disease
26. Paediatric inflammatory leukoencephalopathies
27. Adult inflammatory leukoencephalopathies
28. Infectious leukoencephalopathies
29. Toxic leukoencephalopathies

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• Neurologia e neurofisiologia clínica
• Pesquisa médica
• Endocrinologia
• Metabolismo
• Neurociências

4H leukodystrophy; AARS; AARS2; Abnormal myelination; ADLD; Adrenal failure; Adult polyglucosan body disease; Aicardi-Goutieres syndrome; Alexander disease; ALSP; Amino-acyl tRNA synthetase; Amyloid precursor protein; Amyloid-related imaging abnormalities; Apolipoprotein E; Aquaporin-4 antibodies; ARS; Astrocytes; Autosomal dominant leukodystrophy; Autosomal dominantly inherited Alzheimer's disease; Axonal spheroids; Bacterial; Basal ganglia calcification; Brain; Brain hemorrhage; Brain magnetic resonance imaging (MRI); Brain MRI; Cerebral amyloid angiopathy; Cerebral calcification; Cerebral small vessel disease; Cerebral white matter; Coats plus; Connexin-47; Coordination of care; CSF1R; Delayed myelination; Dementia; Demyelination; Disease-modifying therapies; Drug-related toxic leukoencephalopathy; Dysmyelination; EBV; Encephalitis; Enzyme replacement therapy; Eukaryotic initiation factor 2B (eIF2B); Familial Alzheimer's disease; Genetic; Genetic leukoencephalopathies; Gonadal insufficiency; H-ABC; HCC; HDLS; Hematopoietic stem cell gene therapy; Hematopoietic stem cell transplantation; HEMS; HIV; HSV; Hypomyelination; Hypomyelination of early myelinating structures; Inflammatory leukoencephalopathy; Inherited white matter disorders; Integrated stress response (ISR); Interferonopathy; Intracranial calcification; JC virus; Kearns-Sayre syndrome; Lacunar stroke; Leber hereditary optic neuropathy; Leigh disease; Leukodystrophies; Leukodystrophy; Leukoencephalitis; Leukoencephalopathies; Leukoencephalopathy; Leukoenecphalopathy with calcification and cysts; Lysosomal diseases; MCT8 deficiency; Mendelian diseases; Metabolic diseases; Microglia; Mimics; Mitochondrial aminoacyl-tRNA synthetase disorders; Mitochondrial DNA maintenance disorders; Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes; Mitochondrial neurogastrointestinal encephalomyopathy; MRI; MRI pattern recognition; Multidisciplinary team; Multiple sclerosis; Myelin; Myelin oligodendrocyte glycoprotein antibody-associated disease; Myelopathy; Neurologic disorder; Neuromyelitis optica spectrum disorder; Neuropathology; Neurotoxicity; Newborn screening; Oligodendrocytes; Ovarian failure; Pediatric multiple sclerosis; Pelizaeus-Merzbacher disease; Pelizaeus-Merzbacher-like disease; Peripheral neuropathy; Peroxisomal disease; Peroxisomal disorders; Peroxisomes; PFBC; Pigmented microglia; PLP1-related disorders; POLD; POLR3-related leukodystrophy; Presenilin 1; Presenilin 2; Prevention; Primary mitochondrial diseases; Proteolipid protein; Protozoal; RNA polymerase III; Rosenthal fibers; Schilder's disease; Spinal cord; Symptomatic treatment; Telomere diseases; Toxic-metabolic encephalopathy; Triggering receptor expressed on myeloid cells 2; Type 1 interferon; Vanishing white matter (VWM); Vascular leukoencephalopathies; Very long-chain fatty acids; Viral; VLCFA; VZV; White matter; White matter hyperintensities; Whole genome sequencing; X-linked adrenoleukodystrophy