Peripheral nerve myelin protein 22
Peripheral nerve myelin protein 22 (PMP22) is clinically significant in several genetic peripheral neuropathies. There are several subclasses of Charcot-Marie-Tooth disease (CMT), with loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B) and to another unknown autosome (CMT1C). In hereditary neuropathy with sensitivity to pressure palsies (HNPP),autosomal dominant disorder that results in a recurrent, episodic demyelinating neuropathy. HNPP is associated with a 1.5-Mb deletion in chromosome 17p11.2-12 and results from reduced expression of the PMP22 gene. CMT1A and HNPP are reciprocal duplication/deletion syndromes originating from unequal crossover during germ cell meiosis.[1]
In hereditary motor and sensory neuropathy type 1a (HMSN1a), the level of anti-PMP22 antibody indicated a trend toward the progression of disease. [2]
An inflammatory polyneuropathy may become superimposed on patients with CMT. [3]
References
- ↑ Keller MP, Chance PF (1999 Apr), "Inherited neuropathies: from gene to disease.", Brain Pathol 9: 327-41
- ↑ 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
- ↑ Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, Davis MB, Winer JB, Orrell RW, King RH (2004 Jan (ePub 7 November 2003)), "Coexistent hereditary and inflammatory neuropathy<r", Brain 127(Pt 1): 193-202