HNPP | Encyclopedia MDPI

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HNPP

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hereditary-neuropathy-with-liability-to-pressure-palsies

Hereditary neuropathy with liability to pressure palsies is a disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles and sensory cells that detect touch, pain, and temperature. In people with this disorder, the peripheral nerves are unusually sensitive to pressure, such as the pressure that occurs when carrying heavy grocery bags, leaning on an elbow, or sitting without changing position, particularly with crossed legs. These activities would not normally cause sensation problems in people without the disorder.

genetic conditions

References

Bai Y, Zhang X, Katona I, Saporta MA, Shy ME, O'Malley HA, Isom LL, Suter U,Li J. Conduction block in PMP22 deficiency. J Neurosci. 2010 Jan 13;30(2):600-8. doi: 10.1523/JNEUROSCI.4264-09.2010.
Chance PF. Genetic evaluation of inherited motor/sensory neuropathy. SupplClin Neurophysiol. 2004;57:228-42. Review.
Chance PF. Inherited focal, episodic neuropathies: hereditary neuropathy with liability to pressure palsies and hereditary neuralgic amyotrophy. NeuromolecularMed. 2006;8(1-2):159-74. Review.
Chrestian N. Hereditary Neuropathy with Liability to Pressure Palsies. 1998Sep 28 [updated 2020 Aug 27]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE,Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1392/
Guo J, Wang L, Zhang Y, Wu J, Arpag S, Hu B, Imhof BA, Tian X, Carter BD,Suter U, Li J. Abnormal junctions and permeability of myelin in PMP22-deficientnerves. Ann Neurol. 2014 Feb;75(2):255-65. doi: 10.1002/ana.24086.
Li J, Krajewski K, Lewis RA, Shy ME. Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve. 2004Feb;29(2):205-10.
Potulska-Chromik A, Sinkiewicz-Darol E, Ryniewicz B, Lipowska M, Kabzińska D, Kochański A, Kostera-Pruszczyk A. Clinical, electrophysiological, and molecularfindings in early onset hereditary neuropathy with liability to pressure palsy.Muscle Nerve. 2014 Dec;50(6):914-8. doi: 10.1002/mus.24250.
Rosso G, Liashkovich I, Gess B, Young P, Kun A, Shahin V. Unravelling crucial biomechanical resilience of myelinated peripheral nerve fibres provided by theSchwann cell basal lamina and PMP22. Sci Rep. 2014 Dec 2;4:7286. doi:10.1038/srep07286.
van de Wetering RA, Gabreëls-Festen AA, Timmerman V, Padberg GM, Gabreëls FJ, Mariman EC. Hereditary neuropathy with liability to pressure palsies with a smalldeletion interrupting the PMP22 gene. Neuromuscul Disord. 2002 Oct;12(7-8):651-5.
Yilmaz U, Bird TT, Carter GT, Wang LH, Weiss MD. Pain in hereditary neuropathywith liability to pressure palsy: an association with fibromyalgia syndrome?Muscle Nerve. 2015 Mar;51(3):385-90. doi: 10.1002/mus.24331.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 04 Jan 2021

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