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Articles de revues sur le sujet « Hereditary neuropathy with pressure palsies »

Auteur : Grafiati

Publié le 7 juin 2025

Mis à jour le 2 août 2025

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1

Choi, Hyoung Won, and Nancy L. Kuntz. "Hereditary Neuropathy with Liability to Pressure Palsies." Pediatric Neurology Briefs 29, no. 11 (2015): 83. http://dx.doi.org/10.15844/pedneurbriefs-29-11-2.

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Harada, Yohei, Araya Puwanant, and David N. Herrmann. "Hereditary Neuropathy With Liability to Pressure Palsies." Journal of Clinical Neuromuscular Disease 18, no. 2 (2016): 79–83. http://dx.doi.org/10.1097/cnd.0000000000000136.

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3

Jafarnia, Kourosh, Michael J. Sullivan, and David H. Hildreth. "Hereditary Neuropathy With Liability to Pressure Palsies." Clinical Orthopaedics and Related Research 385 (April 2001): 253–55. http://dx.doi.org/10.1097/00003086-200104000-00036.

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4

Attarian, Shahram, Farzad Fatehi, Yusuf A. Rajabally, and Davide Pareyson. "Hereditary neuropathy with liability to pressure palsies." Journal of Neurology 267, no. 8 (2019): 2198–206. http://dx.doi.org/10.1007/s00415-019-09319-8.

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Smith, Greg N., and Thomas S. Higgins. "Hereditary neuropathy with liability to pressure palsies." Journal of Hand Surgery 27, no. 2 (2002): 362–63. http://dx.doi.org/10.1053/jhsu.2002.30364.

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Dharmakeerthi, D. M. W., and D. Sirisena. "Hereditary neuropathy with liability to pressure palsies." Sri Lanka Journal of Neurology 5, no. 1 (2018): 24. http://dx.doi.org/10.4038/sljon.v5i1.65.

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Grishina, D. A., and N. A. Suponeva. "Neurophysiological differential diagnostic markers in hereditary neuropathy with liability to pressure palsies and chronic inflammatory demyelinating polyradiculoneuropathy." Neuromuscular Diseases 13, no. 1 (2023): 52–67. http://dx.doi.org/10.17650/2222-8721-2023-13-1-52-67.

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Background. Today, the issues of differential diagnosis of chronic hereditary and acquired demyelinating neuropathies are still relevant. The variety of phenotypic variants of chronic inflammatory demyelinating polyradiculoneuropathy and hereditary neuropathy with liability to pressure palsies, their remitting course and the non-specificity of neurophysiological changes necessitate the identification of clear markers that can help in the differential diagnosis of the neuropathies under discussion already at the stage of the analysis of the electroneuromyographic study data.Aim. To determine ne

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Pareyson, D. "Hereditary Neuropathy with liability to Pressure Palsies (HNPP)." Electroencephalography and Clinical Neurophysiology 103, no. 1 (1997): 12. http://dx.doi.org/10.1016/s0013-4694(97)87955-6.

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Topakian, R., S. Wimmer, B. Pischinger, and R. Pichler. "Hereditary neuropathy with liability to pressure palsies presenting with sciatic neuropathy." Case Reports 2014, oct17 1 (2014): bcr2014206883. http://dx.doi.org/10.1136/bcr-2014-206883.

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Lane, Joshua E., Guy D. Foulkes, Thomas D. Hope, Vladimir I. Mayorov, and Linda Adkison. "Hereditary neuropathy with liability to pressure palsies mimicking multifocal compression neuropathy." Journal of Hand Surgery 26, no. 4 (2001): 670–74. http://dx.doi.org/10.1053/jhsu.2001.26029.

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Gabreëls-Festen, A. A., F. J. Gabreëls, E. M. Joosten, H. Vingerhoets, and W. Renier. "Hereditary Neuropathy with Liability to Pressure Palsies in Childhood*." Neuropediatrics 23, no. 03 (1992): 138–43. http://dx.doi.org/10.1055/s-2008-1071329.

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CHANCE, PHILIP F. "Overview of Hereditary Neuropathy with Liability to Pressure Palsies." Annals of the New York Academy of Sciences 883, no. 1 (1999): 14–21. http://dx.doi.org/10.1111/j.1749-6632.1999.tb08562.x.

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Goikhman, Igor, Jacob Meer, and Nathanel Zelnik. "Hereditary neuropathy with liability to pressure palsies in infancy." Pediatric Neurology 28, no. 4 (2003): 307–9. http://dx.doi.org/10.1016/s0887-8994(02)00630-6.

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Felice, Kevin J., Carol R. Leicher, and Francis J. DiMario. "Hereditary neuropathy with liability to pressure palsies in children." Pediatric Neurology 21, no. 5 (1999): 818–21. http://dx.doi.org/10.1016/s0887-8994(99)00086-7.

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Tackenberg, B., J. C. Moller, H. Rindock, et al. "CNS involvement in hereditary neuropathy with pressure palsies (HNPP)." Neurology 67, no. 12 (2006): 2250–52. http://dx.doi.org/10.1212/01.wnl.0000249185.78359.06.

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16

Iwasaki, Y., H. Iguchi, K. Ikeda, and O. Kano. "CNS INVOLVEMENT IN HEREDITARY NEUROPATHY WITH PRESSURE PALSIES (HNPP)." Neurology 68, no. 23 (2007): 2046. http://dx.doi.org/10.1212/01.wnl.0000268588.67446.3e.

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Barroso, Fabio A., Ram??n Leiguarda, and Mart??n A. Nogu??s. "Hereditary Neuropathy With Liability to Pressure Palsies Manifesting By Recurrent Neuropathic Pain." Journal of Clinical Neuromuscular Disease 8, no. 1 (2006): 26–30. http://dx.doi.org/10.1097/01.cnd.0000245217.93797.a3.

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Polynnikova, A. K., O. E. Zinovyeva, O. A. Solokha, and E. V. Misyuryaeva. "Hereditary neuropathy with liability to pressure palsies: a case report." Neurology, Neuropsychiatry, Psychosomatics 13, no. 4 (2021): 116–22. http://dx.doi.org/10.14412/2074-2711-2021-4-116-122.

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Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare hereditary disorder characterized by recurrent episodes of nerve compression. The first attack usually occurs in the second or third decade of life. In the majority of cases, HNPP is associated with a mutation at chromosome 17 p11.2-12 comprising the gene encoding peripheral myelin protein 22 (PMP22). Here we present a case report of a 43-year-old male with HNPP confirmed by DNA testing. The patient complained of recurrent episodes of bilateral foot extensor muscles weakness and/or hyperesthesia on the outer surface of t

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19

DANG, Jing-xia, Jie LIU, Jin WANG, et al. "Neurophysiological diagnosis of hereditary neuropathy with liability to pressure palsies." Academic Journal of Second Military Medical University 31, no. 7 (2011): 730–33. http://dx.doi.org/10.3724/sp.j.1008.2011.00730.

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20

Farooq, Muhammad, Jayne Martin, and Michael Andary. "Unusual presentation of hereditary neuropathy with liability to pressure palsies." Journal of Brachial Plexus and Peripheral Nerve Injury 03, no. 01 (2014): e86-e91. http://dx.doi.org/10.1186/1749-7221-3-2.

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21

Lorenzoni, Paulo J., Rosana H. Scola, Juliana Cardoso, et al. "Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies." Arquivos de Neuro-Psiquiatria 66, no. 4 (2008): 898–900. http://dx.doi.org/10.1590/s0004-282x2008000600027.

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22

Takahashi, Sachiko, Marvin Chum, and Kurt Kimpinski. "Electrodiagnostic Characterization of Hereditary Neuropathy With Liability to Pressure Palsies." Journal of Clinical Neuromuscular Disease 18, no. 3 (2017): 119–24. http://dx.doi.org/10.1097/cnd.0000000000000152.

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23

Andersson, P. B., E. Yuen, K. Parko, and Y. T. So. "Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies." Neurology 54, no. 1 (2000): 40. http://dx.doi.org/10.1212/wnl.54.1.40.

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Hardon, W. J., N. van Alfen, M. J. Zwarts, and J. J. Rotteveel. "Hereditary neuropathy with liability to pressure palsies in a toddler." Neurology 59, no. 12 (2002): 2008. http://dx.doi.org/10.1212/01.wnl.0000038440.62977.5c.

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25

Bayrak, Ayse O., Ilkay Koray Bayrak, Esra Battaloglu, Burcak Ozes, Onur Yildiz, and Musa Kazim Onar. "Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies." Neurological Research 37, no. 2 (2014): 106–11. http://dx.doi.org/10.1179/1743132814y.0000000411.

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26

Ogawara, Kazue, Toshio Fukutake, Satoshi Kuwabara, Masato Asahina, and Takamichi Hattori. "Raynaud's phenomenon in hereditary neuropathy with liability to pressure palsies." Muscle & Nerve 28, no. 2 (2003): 252–53. http://dx.doi.org/10.1002/mus.10415.

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Hooper, Davyd R., Wendy Lawson, Lisa Smith, and Steven K. Baker. "Sonographic features in hereditary neuropathy with liability to pressure palsies." Muscle & Nerve 44, no. 6 (2011): 862–67. http://dx.doi.org/10.1002/mus.22199.

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Lucchetta, Marta, Chiara Dalla Torre, Giuseppe Granata, Chiara Briani, and Luca Padua. "Sonographic features in hereditary neuropathy with liability to pressure palsies." Muscle & Nerve 45, no. 6 (2012): 920–21. http://dx.doi.org/10.1002/mus.23363.

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29

Sellman, Michael S., and Richard F. Mayer. "Conduction block in hereditary neuropathy with susceptibility to pressure palsies." Muscle & Nerve 10, no. 7 (1987): 621–25. http://dx.doi.org/10.1002/mus.880100706.

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30

Cho, Sun-Mi, Bo Young Hong, Yoonjung Kim, et al. "Partial Gene Deletions ofPMP22Causing Hereditary Neuropathy with Liability to Pressure Palsies." Case Reports in Genetics 2014 (2014): 1–3. http://dx.doi.org/10.1155/2014/946010.

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Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5 Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (PMP22) gene. Other patients with similar phenotypes have been shown to harbor point mutations or small deletions, although there is some clinical variation across these patients. In this report, we describe a case of HNPP with copy number changes in exon or promoter regions ofPMP22. Multiplex ligation-dependent probe analysis revealed an exon 1b deletion in the patient, who had

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31

Isik, Kubra, and Zeki Odabaşı. "An interesting cause of wrist drop: The crow position in yoga and hereditary neuropathy with liability to pressure palsies." Turkish Journal of Physical Medicine and Rehabilitation 70, no. 2 (2024): 282–84. http://dx.doi.org/10.5606/tftrd.2024.12006.

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Hereditary neuropathy with liability pressure palsies (HNPP) is usually caused by compression and is an episodic, painless, recurrent hereditary neuropathy with focal motor and sensory involvement. It begins in adolescence and young adulthood. The most commonly affected nerves in HNPP are the ulnar, peroneal, radial, and median nerves. In this article, we present a 31-year-old female patient with a previously undescribed case of HNPP, which presented with wrist drop due to the trapping of the radial nerve in the spiral groove after the crow position in yoga.

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32

Herbertz, Simone, Sibylle Strenge, Steffen Syrbe, Andreas Merkenschlager, and Matthias Bernhard. "Rezidivierende Muskellähmungen." Kinder- und Jugendmedizin 6, no. 06 (2006): 369–70. http://dx.doi.org/10.1055/s-0037-1617931.

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ZusammenfassungRezidivierende Muskellähmungen geben oft Anlass zu einer ausgedehnten apparativen Diagnostik. Ein 14-jähriger Junge wurde mit Paresen im Bizeps- und Fußheberbereich nach Bagatelltrauma vorgestellt. Familienanamnestisch fielen rezidivierende passagere Lähmungen beim Kindesvater auf. Die Elektroneuro- und Elektromyographie (EMG/ENG) zeigten eine peripher-neurogene Schädigung. In der genetischen Untersuchung konnte mit dem Nachweis einer Deletion im Bereich des Peripheren Myelin Protein 22-Gens (PMP22) in der chromosomalen Region 17p11.2 der klinische Verdacht auf eine HNPP (heredi

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33

Pareyson, Davide, Sara Botti, Angelo Sghirlanzoni, and Franco Taroni. "PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies." Neurology 49, no. 5 (1997): 1478.1–1478. http://dx.doi.org/10.1212/wnl.49.5.1478.

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Young, P., H. Wiebusch, F. Stögbauer, B. Ringelstein, G. Assmann, and H. Funke. "PMP22 frameshift mutation and hereditary neuropathy with liability to pressure palsies." Neurology 49, no. 5 (1997): 1478.2–1479. http://dx.doi.org/10.1212/wnl.49.5.1478-a.

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Kalfakis, N., M. Panas, G. Karadima, P. Floroskufi, N. Kokolakis, and D. Vassilopoulos. "Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment." Neurology 59, no. 9 (2002): 1470–71. http://dx.doi.org/10.1212/01.wnl.0000032505.45389.94.

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Koehler, P. J. "Hereditary neuropathy with liability to pressure palsies: The first publication (1947)." Neurology 60, no. 7 (2003): 1211–13. http://dx.doi.org/10.1212/01.wnl.0000056044.69057.d3.

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Corwin, H. M., and R. E. Girardet. "Hereditary neuropathy with liability to pressure palsies mimicking hypoglossal nerve injuries." Neurology 61, no. 10 (2003): 1457–58. http://dx.doi.org/10.1212/01.wnl.0000094207.10032.ba.

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Dubourg, Odile, Philippe Mouton, Alexis Brice, Eric LeGuern, and Pierre Bouche. "Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies." Neuromuscular Disorders 10, no. 3 (2000): 206–8. http://dx.doi.org/10.1016/s0960-8966(99)00103-0.

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Bhatt, Archit, Muhammad U. Farooq, Rany Aburashed, et al. "Hereditary neuropathy with liability to pressure palsies and amyotrophic lateral sclerosis." Neurological Sciences 30, no. 3 (2009): 241–45. http://dx.doi.org/10.1007/s10072-009-0034-x.

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Novakova, L., and J. Sussova. "86. Unusual form of hereditary neuropathy with liability to pressure palsies." Clinical Neurophysiology 123, no. 6 (2012): e41. http://dx.doi.org/10.1016/j.clinph.2011.11.168.

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Chance, Phillip F., Mary Kathryn Alderson, Kathleen A. Leppig, et al. "DNA deletion associated with hereditary neuropathy with liability to pressure palsies." Cell 72, no. 1 (1993): 143–51. http://dx.doi.org/10.1016/0092-8674(93)90058-x.

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Delacour, Hervé, F. Bompaire, L. Biale, M. Sallansonnet-Froment, F. Ceppa, and P. Burnat. "Hereditary Neuropathy with Liability to Pressure Palsies Occurring During Military Training." Journal of the Royal Army Medical Corps 158, no. 1 (2012): 47–49. http://dx.doi.org/10.1136/jramc-158-01-12.

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Lorenzoni, P. J., J. Cardoso, C. S. K. Kay, et al. "16. Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies." Clinical Neurophysiology 120, no. 1 (2009): e5. http://dx.doi.org/10.1016/j.clinph.2008.07.265.

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Grossman, Marc J., Joseph Feinberg, Edward F. DiCarlo, Sherri B. Birchansky, and Scott W. Wolfe. "Hereditary Neuropathy with Liability to Pressure Palsies: Case Report and Discussion." HSS Journal 3, no. 2 (2007): 208–12. http://dx.doi.org/10.1007/s11420-007-9056-1.

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Pridmore, Michael, Ryan Castoro, Megan Simmons McCollum, Hakmook Kang, Jun Li, and Richard Dortch. "Length‐dependent MRI of hereditary neuropathy with liability to pressure palsies." Annals of Clinical and Translational Neurology 7, no. 1 (2019): 15–25. http://dx.doi.org/10.1002/acn3.50953.

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Fritz, Nora E., Yongsheng Chen, Lauren Waters, et al. "Fatigue in patients with hereditary neuropathy with liability to pressure palsies." Annals of Clinical and Translational Neurology 7, no. 8 (2020): 1400–1409. http://dx.doi.org/10.1002/acn3.51133.

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Dukefoss, Tore Thomas, Inge Petter Kleggetveit, Tormod Helås, and Ellen Jørum. "Pain and small-fiber affection in hereditary neuropathy with liability to pressure palsies (HNPP)." Scandinavian Journal of Pain 20, no. 1 (2019): 61–68. http://dx.doi.org/10.1515/sjpain-2019-0090.

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AbstractBackground and aimsHereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal – dominant hereditary neuropathy caused by a deficiency in the peripheral protein PMP-22, due to deletion on chromosome 17p11,2 or in some rare cases point mutations in the PMP-22 gene. The clinical picture is characterized by recurrent mononeuropathies in nerves which frequently may be exposed to pressure, such as the median, ulnar, radial and peroneal nerves or also a more general neuropathy. Although pain is reported to be an unusual clinical symptom, there have been reports of pain in

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Foo, Eng Chuan, Ali Al-Samak, Khine Khine Lwin, Myat Thura, and Shwe Zin Tun. "193 Unusual presentation of hereditary neuropathy with liability to pressure palsies (HNPP)." Journal of Neurology, Neurosurgery & Psychiatry 93, no. 9 (2022): e2.154. http://dx.doi.org/10.1136/jnnp-2022-abn2.237.

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IntroductionHNPP is an autosomal dominant disorder with estimated prevalence between 0.84- 16/100,000, commonly presenting as mononeuropathies involving pressure-prone areas. Presentation as both a brachial plexopathy and spinal accessory neuropathy is rare, and previously unreported.Case ReportA 30-year old female with no known medical co-morbidities presented with a 3-month history of right shoulder pain and weakness, and intermittent numbness of the elbow and hand. Examina- tion showed wasting of right trapezius and spinati muscles, shoulder droop, and weakness involving the right sternocle

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Nakamura, Takumi, Takeshi Kawarabayashi, Yusuke Seino, and Mikio Shoji. "A case of hereditary neuropathy with liability to pressure palsies due to push-up exercise." Rinsho Shinkeigaku 57, no. 7 (2017): 383–86. http://dx.doi.org/10.5692/clinicalneurol.cn-001023.

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Rudnik-Schöneborn, Sabine, Michaela Auer-Grumbach, and Jan Senderek. "Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020." Medizinische Genetik 32, no. 3 (2020): 207–19. http://dx.doi.org/10.1515/medgen-2020-2038.

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Abstract Inherited peripheral neuropathy is the most common hereditary neuromuscular disease with a prevalence of about 1:2,500. The most frequent form is Charcot-Marie-Tooth disease (CMT, or hereditary motor and sensory neuropathy [HMSN]). Other clinical entities are hereditary neuropathy with liability to pressure palsies (HNPP), distal hereditary motor neuropathies (dHMN), and hereditary sensory and autonomic neuropathies (HSAN). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether more than 100 ge

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