Charcot-Marie-tooth disease is common inherited peripheral neuropathy affecting 1:2,500
- Type 1b: point mutations in peripheral myelin protein (P0) gene
- Type 1a (autosomal dominant): over-expression of peripheral
myelin protein (PMP22) due to gene duplication
- X-linked: defect in gap junction protein of myelin lamellae
(connexin32)
Symptoms
- Greatly decreased conduction velocity
- Cyclical demyelination/myelination
- Impaired gait, deformed contracted foot (pes cavus) are long-
term hallmarks of chronic disease
Other myelin diseases
- Some diseases of CNS myelin ("leukodystrophies") are also genetic
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