Peripheral nerve myelin protein 22
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Peripheral nerve myelin protein 22 (PMP22) is clinically significant in several genetic peripheral neuropathies. In Charcot-Marie-Tooth disease, the PMP22 gene is duplicated; in hereditary neuropathy with sensitivity to pressure palsies (HBPP), the gene is omitted.
In hereditary motor and sensory neuropathy type 1a (HMSN1a), the level of anti-PMP22 antibody indicated a trend toward the progression of disease. [1]
References
- ↑ Gabriel CM, Gregson NA, Wood NW, Hughes RAC (2002), "Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a)", J Neurol Neurosurg Psychiatry 72: 230-235, DOI:10.1136/jnnp.72.2.230