Peripheral nerve myelin protein 22: Difference between revisions

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'''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
'''Peripheral nerve myelin protein 22 (PMP22)''' is clinically significant in several genetic [[peripheral neuropathy|peripheral neuropathies]].<ref name=Keller1999>{{citation
  | journal = Brain Pathol
  | journal = Brain Pathol
  | date = 1999 Apr
  | date = 1999 Apr
Line 7: Line 7:
  | author = Keller MP, Chance PF
  | 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$=relatedreviews&logdbfrom=pubmed
  | url = http://www.ncbi.nlm.nih.gov/pubmed/10219749?ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_SingleItemSupl.Pubmed_Discovery_RA&linkpos=4&log$=relatedreviews&logdbfrom=pubmed
}}</ref>   
}}</ref> 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<ref>{{citation
| journal = Genome Res
| date=2001 Jun
| url = http://www.ncbi.nlm.nih.gov/pubmed/11381029?itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum&ordinalpos=22
| volume = 11 | pages = 1018-33.
| title = 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.
| author = Inoue K, Dewar K, Katsanis N, Reiter LT, Lander ES, Devon KL, Wyman DW, Lupski JR, Birren B}}</ref> originating from unequal crossover during germ cell meiosis.<ref name=Keller1999  /HNPP is associated with a 1.5-Mb deletion in chromosome 17p11.2-12 and results from reduced expression of the PMP22 gene. <ref>{{citation
| Am J Hum Genet
| date = 1995 Jan
| volume = 56(1):91-8.
| title = A 1.5-Mb deletion in 17p11.2-p12 is frequently observed in Italian families with hereditary neuropathy with liability to pressure palsies.
| author = Lorenzetti D, Pareyson D, Sghirlanzoni A, Roa BB, Abbas NE, Pandolfo M, Di Donato S, Lupski JR
| url = http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1801301/?tool=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
Line 19: Line 33:
  | 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
An inflammatory polyneuropathy may become superimposed on patients with CMT. This inflammation has been treated with [[corticosteroid]]s and [[intravenous immune globulin]] (IVIG).<ref>{{citation
  | journal = Brain
  | journal = Brain
  | date = 2004 Jan (ePub 7 November 2003)
  | date = 2004 Jan (ePub 7 November 2003)

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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. 1.0 1.1 Keller MP, Chance PF (1999 Apr), "Inherited neuropathies: from gene to disease.", Brain Pathol 9: 327-41
  2. 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.
  3. 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.
  4. 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
  5. 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