Inherited White Matter Disorders and Their Mimics
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Inherited White Matter Disorders and Their Mimics
Houlden, Henry; Lynch, David S.
Elsevier - Health Sciences Division
10/2024
514
Dura
Inglês
9780323992091
15 a 20 dias
Descrição não disponível.
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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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
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
Este título pertence ao(s) assunto(s) indicados(s). Para ver outros títulos clique no assunto desejado.
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
