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Guidelines on Hereditary Leukodystrophies

Formation of a Team to Develop a System for the Diagnosis, Treatment, and Study of Hereditary Leukodystrophies (Study Representative: Hitoshi Osaka, Jichi Medical University): Research on Measures for Intractable Diseases funded by a MHLW Health and Labour Sciences Research Grant

Table of Contents

I. Congenital Cerebral Leukodystrophies

General Introduction

1. What are cerebral leukodystrophies?
2. What sort of imaging is used to diagnose cerebral leukodystrophies?
3. How are cerebral leukodystrophies treated?
4. How are cerebral leukodystrophies inherited?

Individual diseases

5. Pelizaeus-Merzbacher disease
6. Pelizaeus-Merzbacher–like disease
7. Chromosome 18q deletion syndrome
8. MCT8 deficiency
9. Hsp60 chaperonopathy
10. Salla disease
11. Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum
12. Hypomyelination with congenital cataract
13. Pol III–related leukodystrophy (hypomyelination with atrophy of the basal ganglia and cerebellum/hypomyelination with ataxia and hypodontia)
14. Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

II. Other Congenital Leukodystrophies

15. What is Alexander disease?
16. What is Canavan disease?