Other hypomyelinating disorders
Evidence-based neurology checklist on other hypomyelinating disorders: Metabolic disorders 18q-syndrome Cockayne syndrome Fucosidosis Galactosaemia Oculodentodigital dysplasia RARS-associated hypomyelination Serine synthesis defects SOX10-associated disorders Trichodystrophy with hypersensitivity…
Metabolic disorders
- 18q-syndrome
- Cockayne syndrome
- Fucosidosis
- Galactosaemia
- Oculodentodigital dysplasia
- RARS-associated hypomyelination
- Serine synthesis defects
- SOX10-associated disorders
- Trichodystrophy with hypersensitivity to sunlight (Tays syndrome)
- Trichothiodystrophy with hypersensitivity to sunlight
Other hypomyelination leukodystrophies
References
- Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter diseases. Neurology 2009; 72:750-759.
- Pouwels PJ, Vanderver A, Bernard G, et al. Hypomyelinating leukodystrophies: translational research progress and prospects. Ann Neurol 2014; 76:5-19.
- Di Rocco M, Biancheri R, Rossi A, Filocamo M, Tortori-Donati P. Genetic disorders affecting white matter in the pediatric age. Am J Med Genet B Neuropsychiatr Genet 2004; 129B:85-93.
- Steenweg ME, Vanderver A, Blaser S, et al. Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 2010; 133:2971-2982.
- Biancheri R, Zara F, Rossi A, et al. Hypomyelination and congenital cataract: broadening the clinical phenotype. Arch Neurol 2011; 68:1191-1194.
