Peripheral nerve myelin protein 22: Difference between revisions
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Latest revision as of 17:01, 2 October 2024
Peripheral nerve myelin protein 22 (PMP22) is clinically significant in several genetic peripheral neuropathies.[1] These include the several subclasses of Charcot-Marie-Tooth disease (CMT), with loci mapping to chromosome 17 (CMT1A), chromosome 1 (CMT1B) and to another unknown autosome (CMT1C), as well as hereditary neuropathy with sensitivity to pressure palsies (HNPP), an autosomal dominant disorder that results in a recurrent, episodic demyelinating neuropathy.
CMT1A and HNPP are reciprocal duplication/deletion syndromes[2] originating from unequal crossover during germ cell meiosis.[1] HNPP is associated with a 1.5-Mb deletion in chromosome 17p11.2-12 and results from reduced expression of the PMP22 gene. [3]
In hereditary motor and sensory neuropathy type 1a (HMSN1a), the level of anti-PMP22 antibody indicated a trend toward the progression of disease. [4]
An inflammatory polyneuropathy may become superimposed on patients with CMT. This inflammation has been treated with corticosteroids and intravenous immune globulin (IVIG).[5]
References
- ↑ 1.0 1.1 Keller MP, Chance PF (1999 Apr), "Inherited neuropathies: from gene to disease.", Brain Pathol 9: 327-41
- ↑ Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B (2001 Jun), "The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.", Genome Res 11: 1018-33.
- ↑ Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski JR (1995 Jan), A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies., vol. 56(1):91-8.
- ↑ 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