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Neuropathy, Recurrent, with Pressure Palsies

MedGen UID:
1778956
•Concept ID:
C5444131
•
Disease or Syndrome
Synonym: Hereditary Neuropathy with Liability to Pressure Palsies

Definition

An autosomal dominant condition caused by mutation(s) in the PMP22 gene, encoding peripheral myelin protein 22. Neuropathy is precipitated by mechanical compression on a nerve, typically with onset in the first and second decades. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeuropathy, Recurrent, with Pressure Palsies

Professional guidelines

PubMed

Shoulder dystocia: the unpreventable obstetric emergency with empiric management guidelines.
Gherman RB, Chauhan S, Ouzounian JG, Lerner H, Gonik B, Goodwin TM
Am J Obstet Gynecol 2006 Sep;195(3):657-72. Epub 2006 Apr 21 doi: 10.1016/j.ajog.2005.09.007. PMID: 16949396
Genetic evaluation of inherited motor/sensory neuropathy.
Chance PF
Suppl Clin Neurophysiol 2004;57:228-42. doi: 10.1016/s1567-424x(09)70360-5. PMID: 16106622

Recent clinical studies

Etiology

Clinical and neurophysiological findings in patients with hereditary neuropathy with liability to pressure palsy and chromosome 17p11.2 deletion.
Pabón Meneses RM, Azcona Ganuza G, Urriza Mena J, Ibiricu Yanguas A, Gila Useros L, García de Gurtubay I
Neurologia (Engl Ed) 2022 May;37(4):243-249. Epub 2021 Apr 24 doi: 10.1016/j.nrleng.2019.02.012. PMID: 35595399
Hereditary neuralgic amyotrophy.
Meuleman J, Timmerman V, Van Broeckhoven C, De Jonghe P
Neurogenetics 2001 Jul;3(3):115-8. doi: 10.1007/s100480100109. PMID: 11523561
Inherited peripheral neuropathy.
Keller MP, Chance PF
Semin Neurol 1999;19(4):353-62. doi: 10.1055/s-2008-1040850. PMID: 10716658
Inherited neuropathies.
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455
Charcot-Marie-Tooth syndrome.
Chance PF, Pleasure D
Arch Neurol 1993 Nov;50(11):1180-4. doi: 10.1001/archneur.1993.00540110060006. PMID: 8215977

Diagnosis

Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom.
Karklinsky S, Kugler S, Bar-Yosef O, Nissenkorn A, Grossman-Jonish A, Tirosh I, Vivante A, Pode-Shakked B
Ital J Pediatr 2022 Jun 3;48(1):84. doi: 10.1186/s13052-022-01280-z. PMID: 35658923Free PMC Article
Hereditary neuropathy with liability to pressure palsies.
Attarian S, Fatehi F, Rajabally YA, Pareyson D
J Neurol 2020 Aug;267(8):2198-2206. Epub 2019 Apr 15 doi: 10.1007/s00415-019-09319-8. PMID: 30989370
Overview of hereditary neuropathy with liability to pressure palsies.
Chance PF
Ann N Y Acad Sci 1999 Sep 14;883:14-21. PMID: 10586225
Hereditary neuralgic amyotrophy.
Chance PF, Windebank AJ
Curr Opin Neurol 1996 Oct;9(5):343-7. doi: 10.1097/00019052-199610000-00005. PMID: 8894409
Inherited neuropathies.
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455

Therapy

Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain-Barré Syndrome: A case report.
Zhu J, Tong X, Li Y, Li G, Pi Z
Medicine (Baltimore) 2022 Sep 23;101(38):e30768. doi: 10.1097/MD.0000000000030768. PMID: 36197172Free PMC Article
Recurrent absence status epilepticus (spike-and-wave stupor) associated with lamotrigine therapy.
Hasan M, Lerman-Sagie T, Lev D, Watemberg N
J Child Neurol 2006 Sep;21(9):807-9. doi: 10.1177/08830738060210090801. PMID: 16970892
Shoulder dystocia: the unpreventable obstetric emergency with empiric management guidelines.
Gherman RB, Chauhan S, Ouzounian JG, Lerner H, Gonik B, Goodwin TM
Am J Obstet Gynecol 2006 Sep;195(3):657-72. Epub 2006 Apr 21 doi: 10.1016/j.ajog.2005.09.007. PMID: 16949396
Hereditary neuropathy with liability to pressure palsies in infancy.
Goikhman I, Meer J, Zelnik N
Pediatr Neurol 2003 Apr;28(4):307-9. doi: 10.1016/s0887-8994(02)00630-6. PMID: 12849887
Timescale of evolution of late radiation injury after postoperative radiotherapy of breast cancer patients.
Johansson S, Svensson H, Denekamp J
Int J Radiat Oncol Biol Phys 2000 Oct 1;48(3):745-50. doi: 10.1016/s0360-3016(00)00674-x. PMID: 11020571

Prognosis

Hereditary neuropathy with liability to pressure palsies (HNPP): Intrafamilial phenotypic variability and early childhood refusal to walk as the presenting symptom.
Karklinsky S, Kugler S, Bar-Yosef O, Nissenkorn A, Grossman-Jonish A, Tirosh I, Vivante A, Pode-Shakked B
Ital J Pediatr 2022 Jun 3;48(1):84. doi: 10.1186/s13052-022-01280-z. PMID: 35658923Free PMC Article
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M
Orphanet J Rare Dis 2014 Mar 19;9:38. doi: 10.1186/1750-1172-9-38. PMID: 24646194Free PMC Article
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.
Chance PF
Neuromolecular Med 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159. PMID: 16775374
Hereditary neuralgic amyotrophy.
Meuleman J, Timmerman V, Van Broeckhoven C, De Jonghe P
Neurogenetics 2001 Jul;3(3):115-8. doi: 10.1007/s100480100109. PMID: 11523561
Inherited neuropathies.
Chance PF, Reilly M
Curr Opin Neurol 1994 Oct;7(5):372-80. doi: 10.1097/00019052-199410000-00002. PMID: 7804455

Clinical prediction guides

Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience.
Luigetti M, Del Grande A, Conte A, Lo Monaco M, Bisogni G, Romano A, Zollino M, Rossini PM, Sabatelli M
J Neurol Sci 2014 Jun 15;341(1-2):46-50. Epub 2014 Mar 31 doi: 10.1016/j.jns.2014.03.046. PMID: 24726093
Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy.
Chance PF
Neuromolecular Med 2006;8(1-2):159-74. doi: 10.1385/NMM:8:1:159. PMID: 16775374
Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11.2-p12 deletion.
Kim SM, Chung KW, Choi BO, Yoon ES, Choi JY, Park KD, Sunwoo IN
Exp Mol Med 2004 Feb 29;36(1):28-35. doi: 10.1038/emm.2004.4. PMID: 15031668
Overview of hereditary neuropathy with liability to pressure palsies.
Chance PF
Ann N Y Acad Sci 1999 Sep 14;883:14-21. PMID: 10586225
Hereditary neuropathy with liability to pressure palsies. Report of two families and review of the literature.
Meier C, Moll C
J Neurol 1982;228(2):73-95. doi: 10.1007/BF00313754. PMID: 6185651

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