Update on genetic disorders affecting white matter

Pediatric Neurology

Volumn 24, Issue 1, 2001, Pages 11-24

  Kaye, Edward M ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLIC ACID; CEREBROSIDE SULFATASE; LIPID; MYELIN; MYELIN BASIC PROTEIN; MYELIN PROTEIN; SPHINGOLIPID ACTIVATOR PROTEIN;

BRAIN DISEASE; CEREBROTENDINOUS XANTHOMATOSIS; COMPUTER ASSISTED TOMOGRAPHY; DISEASE CLASSIFICATION; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY METABOLISM; ENZYME DEFICIENCY; GENETIC DISORDER; GLOBOID CELL LEUKODYSTROPHY; HUMAN; LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; METACHROMATIC LEUKODYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PELIZAEUS MERZBACHER DISEASE; PRIORITY JOURNAL; REVIEW; SJOEGREN LARSSON SYNDROME; WHITE MATTER;

BRAIN; BRAIN DISEASES; CHILD; DIAGNOSIS, DIFFERENTIAL; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING;

EID: 0035130605     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(00)00232-0     Document Type: Review

References (134)

1. Über familiare diffuse sklerose (leukodystrophia cerebri prgressiva hereditaria)
2. Schilder's myelinoclastic diffuse sclerosis
3. Bronzekrankheit und sklerosierende encephalomyelintis
4. Morbus Addison mit hirnsklerose im kindesalter-Ein hereditares syndrom mit X-chomosomaler vererbung
5. Fatty acid abnormality in adrenoleukodystrophy
6. Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
7. Role of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy
8. X-linked adrenoleukodystrophy; Genes, mutations, and phenotypes
9. Adrenoleukodystrophy protein enhances association of very long-chain acyl-coenzyme A synthetase with the peroxisome
10. Gene redundancy and pharmacological gene therapy; Implications for X-linked adrenoleukodystrophy
11. Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters
12. Mutational analysis and the pathogenesis of variant X-linked adrenoleukodystrophy phenotypes
13. A two-year trial of oleic and erucic acids ('Lorenzo's') as treatment for adrenomyeloneuropathy
14. Adrenoleukodystrophy update; Genetics and effect of Lorenzo's oil therapy in asymptomatic patients
15. MRI and CT findings in Krabbe's disease
16. Multimodal evoked potential studies in leukodystrophies of children
17. Late-onset globoid cell leucodystrophy (Krabbe's's disease). Clinical and genetic delineation of two forms and their relation to the early- infantile form
18. Late-onset Krabbe's disease (globoid cell leukodystrophy); Clinical and biochemical features of 15 cases
19. Krabbe's Disease (globoid cell leukodystrophy)
20. Deficiency in a degradative enzyme system in globoid leukodystrophy
21. Globoid cell leukodystrophy (Krabbe's's disease); Deficiency of galactocerebroside beta-galactosidase
22. Some aspects of biochemical changes in leukodystrophy
23. Studies in globoid (Krabbe's) leukodystrophy. II. Controlled thin layer chromatographic studies of globoid fractions in seven patients
24. Twenty five years of the 'psychosine hypothesis'; A personal perspective of its history and present status
25. Krabbe's disease locus mapped to chromosome 14 by genetic linkage
26. Cloning and expression of cDNA encoding a human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy
27. Structure and organization of the human galactocerebrosidase (GALC) gene
28. Human galactocerebrosidase gene; promoter analysis of the 5′-flanking region and structural organization
29. Prevalent mutations in the GALC gene of patients with Krabbe's disease of Dutch and other European origin
30. Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy
31. Adult-onset Krabbe's disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination
32. Adult onset globoid cell leukodystrophy (Krabbe's disease); Analysis of galactosylceramidase cDNA from four Japanese patients
33. Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy
34. Metachromatic leucodystrophy; Review of 38 cases
35. Characteristics of the dementia in late-onset metachromatic leukodystrophy
36. Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency
37. Metachromatic leukodystrophy; Molecular genetics and an animal model
38. Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype
39. Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene; Haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients
40. Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele
41. Sphingolipid activator proteins
42. Sphingolipid hydrolases and activator proteins
43. Sjögren-Larsson syndrome. Deficient activity of the fatty aldehyde dehydrogenase component of fatty alcohol:NAD+ oxidoreductase in cultured fibroblasts
44. Carrier detection for Sjögren-Larsson syndrome
45. Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods
46. Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene
47. Sjögren-Larsson syndrome; physical and neurological features. A survey of 35 patients
48. Sjögren-Larsson syndrome. Oligophrenia-ichthyosis-di-tetraplegia
49. MRI of white matter changes in the Sjögren-Larsson syndrome
50. Cerebral MRI and spectroscopy in Sjögren-Larsson syndrome; Case report
51. Ichthyosis in the Sjögren-Larsson syndrome
52. Sjögren-Larsson Syndrome
53. Specific changes in the fundus typical for the Sjögren-Larsson syndrome. An ophthalmological study of 35 patients
54. The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association
55. Genetic homogeneity in Sjögren-Larsson syndrome; Linkage to chromosome 17p in families of different non-Swedish ethnic origins
56. Sjögren-Larsson syndrome is caused by a common mutation in northern European and Swedish patients
57. A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden
58. Mutations associated with Sjögren-Larsson syndrome
59. The molecular basis of Sjögren-Larsson syndrome; mutation analysis of the fatty aldehyde dehydrogenase gene
60. Cerebrotendinous xanthomatosis
61. Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis
62. Magnetic resonance imaging of the brain and spinal cord in cerebrotendinous xanthomatosis
63. Cerebrotendinous Xanthomatosis; The storage of cholesterol within the nervous system
64. Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis
65. Comparative effects of lovastatin and chenodeoxycholic acid on plasma cholestanol levels and abnormal bile acid metabolism in cerebrotendinous xanthomatosis
66. Increased plasma bile alcohol glucuronides in patients with cerebrotendinous xanthomatosis; effect of chenodeoxycholic acid
67. Treatment and follow-up of children with cerebrotendinous xanthomatosis
68. Uber eine eigentumliche form spastischer Lahmung mit Zerebralerscheinungen auf hereditarer Grundlage (multiple Sklerose)
69. Eine eigenartige familiare Erkrankungsform (aplasia axialis extracorticalis congenita)
70. Pelizaeus-Merzbacher disease; A study in nosology
71. Assignment of the gene for myelin proteolipid protein to the X chromosome; Implications for X-linked myelin disorders
72. Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease
73. Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder
74. Pelizaeus-Merzbacher disease; An X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein
75. Pelizaeus-Merzbacher disease; Tight linkage to proteolipid protein (PLP) gene exon variant
76. A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease
77. Inborn errors and demyelination; MRI and the diagnosis of white matter disease
78. Pelizaeus-Merzbacher disease presenting as spinal muscular atrophy; Clinical and molecular studies
79. Proteolipid protein is necessary in peripheral as well as central myelin
80. X-linked developmental defects of myelination; From mouse mutants to human genetic disease
81. Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease
82. Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease
83. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease; Molecular mechanism and phenotypic manifestations
84. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus
85. A male child with the rumpshaker mutation, X-linked spastic paraplegia/Pelizaeus-Merzbacher disease and lysinuria
86. Different mutations in the same codon of the proteolipid protein gene, PLP, may help in correlating genotype with phenotype in Pelizaeus-Merzbacher disease/X-linked spastic paraplegia (PMD/SPG2)
87. Magnetic resonance imaging demonstrates incomplete myelination in 18q- syndrome; Evidence for myelin basic protein haploinsufficiency
88. Schilder's encephalitis periaxialis diffusa; Report of a child aged sixteen and one half months
89. Sur une idiotie familiale avec degenerescence spongieuse du nevraxe
90. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan's disease
91. Canavan's disease; Biochemical and molecular studies
92. Spongy degeneration of the central nervous system (van Bogaert and Bertrand type; Canavan's's disease)
93. Canavan's disease; molecular basis of aspartoacylase deficiency
94. Canavan's disease; From spongy degeneration to molecular analysis
95. Prenatal diagnosis of Canavan's disease
96. Gene trial in New Zealand
97. Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency
98. Hereditary multi-infarct dementia. Morphological and clinical studies of a new disease
99. The phenotypic spectrum of CADASIL; Clinical findings in 102 cases
100. Patterns of MRI lesions in CADASIL
101. CADASIL in a North American family; Clinical, pathologic, and radiologic findings
102. Notch3 mutations in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a mendelian condition causing stroke and vascular dementia
103. Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients
104. Congenital muscular dystrophy; Use of brain MR imaging findings to predict merosin deficiency
105. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping
106. Disorders of carbohydrate metabolism; Glycogen storage diseases
107. Neonatal hypotonia and cardiomyopathy secondary to type IV glycogenosis
108. Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast
109. Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the Tyr329Ser mutation in the glycogen-branching enzyme gene
110. Childhood ataxia with diffuse central nervous system hypomyelination
111. Diffuse white matter disease in three children; An encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopy
112. A new leukoencephalopathy with vanishing white matter
113. Increased cerebrospinal fluid glycine; A biochemical marker for a leukoencephalopathy with vanishing white matter
114. The gene for leukoencephalopathy with vanishing white matter is located on chromosome 3q27
115. Phenotypic variation in leukoencephalopathy with vanishing white matter
116. Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course
117. Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings
118. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children
119. Leukoencephalopathy, megalencephaly, and mild clinical course. A recently individualized familial leukodystrophy. Report on five new cases
120. Progressive fibrinoid degeneration of fibrillary astrocytes associated with mental retardation in a hydrocephalic infant
121. Alexander's's disease; Clues to diagnosis
122. Increased intracranial pressure in Alexander's disease; A rare presentation of white-matter disease
123. Alexander's's disease; A report and reappraisal
124. Alexander's's disease. A disease of astrocytes
125. Alexander's disease
126. Adolescent case of Alexander's disease; MR imaging and MR spectroscopy
127. High molecular weight, GFAP aggregates in Alexander's disease
128. Chromosome 11q23.3-qter deletion and Alexander's disease
129. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis
130. Aicardi-Goutieres syndrome; an update and results of interferon-alpha studies