Peripheral nerve myelin protein 22: Difference between revisions
imported>Howard C. Berkowitz (New page: {{subpages}} '''Peripheral nerve myelin protein 22 (PMP22)''' is clinically significant in several genetic peripheral neuropathies. In [[Charcot-Marie-Tooth disea...) |
imported>Howard C. Berkowitz No edit summary |
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'''Peripheral nerve myelin protein 22 (PMP22)''' is clinically significant in several genetic [[peripheral neuropathy|peripheral neuropathies]]. | '''Peripheral nerve myelin protein 22 (PMP22)''' is clinically significant in several genetic [[peripheral neuropathy|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.<ref name=Keller1999>{{citation | ||
| journal = Brain Pathol | |||
| date = 1999 Apr | |||
| volume = 9 | pages = 327-41 | |||
| title = Inherited neuropathies: from gene to disease. | |||
| author = Keller MP, Chance PF | |||
| url = http://www.ncbi.nlm.nih.gov/pubmed/10219749?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_SingleItemSupl.Pubmed_Discovery_RA&linkpos=4&log$=relatedreviews&logdbfrom=pubmed | |||
}}</ref> | |||
In [[hereditary motor and sensory neuropathy type 1a]] (HMSN1a), the level of anti-PMP22 antibody indicated a trend toward the progression of disease. <ref>{{citation | In [[hereditary motor and sensory neuropathy type 1a]] (HMSN1a), the level of anti-PMP22 antibody indicated a trend toward the progression of disease. <ref>{{citation | ||
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| pages = 230-235 | | pages = 230-235 | ||
| doi=10.1136/jnnp.72.2.230 | | doi=10.1136/jnnp.72.2.230 | ||
| url = http://jnnp.bmj.com/content/72/2/230.full | |||
| title = Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a) | | title = Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a) | ||
| author = Gabriel CM, Gregson NA, Wood NW, Hughes RAC}}</ref> | | author = Gabriel CM, Gregson NA, Wood NW, Hughes RAC}}</ref> | ||
An inflammatory polyneuropathy may become superimposed on patients with CMT. <ref>{{citation | |||
| journal = Brain | |||
| date = 2004 Jan (ePub 7 November 2003) | |||
| volume=127(Pt 1) | |||
| pages = 193-202 | |||
| title = Coexistent hereditary and inflammatory neuropathy<r | |||
| author = Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, Davis MB, Winer JB, Orrell RW, King RH | |||
| url = http://www.ncbi.nlm.nih.gov/pubmed/14607795?dopt=Abstract}}</ref> | |||
==References== | ==References== | ||
{{reflist}} | {{reflist|2}} | ||
Revision as of 14:37, 31 January 2010
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