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Page 1
PMP22-Related Neuropathies: A Systematic Review.
Cesaroni CA, Caiazza L, Pisanò G, Gnazzo M, Sigona G, Rizzi S, Pantani A, Frattini D, Fusco C. Cesaroni CA, et al. Genes (Basel). 2025 Oct 29;16(11):1279. doi: 10.3390/genes16111279. Genes (Basel). 2025. PMID: 41300731 Free PMC article.
Phenotypic classification was reported for 4431/4493 (75.4% CMT1A, 20.9% HNPP, 2.6% CMT1E, 1.2% DSS). Across phenotypes, weakness/foot drop was the leading presenting symptom when considering only cohorts that explicitly reported it (e.g., 65.3% in CMT1A; 76.0% in HNPP …
Phenotypic classification was reported for 4431/4493 (75.4% CMT1A, 20.9% HNPP, 2.6% CMT1E, 1.2% DSS). Across phenotypes, weakness/foo …
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Record CJ, Pipis M, Skorupinska M, Blake J, Poh R, Polke JM, Eggleton K, Nanji T, Zuchner S, Cortese A, Houlden H, Rossor AM, Laura M, Reilly MM. Record CJ, et al. Brain. 2024 Sep 3;147(9):3144-3156. doi: 10.1093/brain/awae064. Brain. 2024. PMID: 38481354 Free PMC article.
In summary, 621 patients had CMT1 (41.0%), 294 CMT2 (19.4%), 205 intermediate CMT (CMTi, 13.5%), 139 hereditary motor neuropathy (HMN, 9.2%), 93 hereditary sensory neuropathy (HSN, 6.1%), 38 sensory ataxic neuropathy (2.5%), 72 hereditary neuropathy with liability to pressure pal …
In summary, 621 patients had CMT1 (41.0%), 294 CMT2 (19.4%), 205 intermediate CMT (CMTi, 13.5%), 139 hereditary motor neuropathy (HMN, 9.2%) …
Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP.
Chompoopong P, Niu Z, Shouman K, Madigan NN, Sandroni P, Berini SE, Shin AY, Brault JS, Boon AJ, Laughlin RS, Thorland E, Mandrekar J, Klein CJ. Chompoopong P, et al. Muscle Nerve. 2022 Oct;66(4):479-486. doi: 10.1002/mus.27687. Epub 2022 Aug 11. Muscle Nerve. 2022. PMID: 35894586
One CMT1A and one HNPP patient improved with CuTS surgery while 2 HNPP patients worsened. DISCUSSION: CTS symptom improvement post-surgery can be seen in CMT1A and (less frequent) in HNPP patients. CuTS surgery commonly worsened course in HNPP. Activit …
One CMT1A and one HNPP patient improved with CuTS surgery while 2 HNPP patients worsened. DISCUSSION: CTS symptom improvement …
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. Karklinsky S, et al. Ital J Pediatr. 2022 Jun 3;48(1):84. doi: 10.1186/s13052-022-01280-z. Ital J Pediatr. 2022. PMID: 35658923 Free PMC article.
Hereditary neuropathy with liability to pressure palsies (HNPP) is a recurrent, episodic demyelinating neuropathy, most commonly caused by a 17p11.2 chromosomal deletion encompassing the PMP22 gene. METHODS: We pursued chromosomal microarray analysis (CMA) in multiple affe …
Hereditary neuropathy with liability to pressure palsies (HNPP) is a recurrent, episodic demyelinating neuropathy, most commonly caus …
Candidate imaging biomarkers for PMP22-related inherited neuropathies.
Roth AR, Li J, Dortch RD. Roth AR, et al. Ann Clin Transl Neurol. 2022 Jul;9(7):925-935. doi: 10.1002/acn3.51561. Epub 2022 Jun 3. Ann Clin Transl Neurol. 2022. PMID: 35656877 Free PMC article.
OBJECTIVE: Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (HNPP) are caused by mutations to the peripheral myelin protein 22 (PMP22) gene. A need exists for sensitive and reliable biomarkers of progression and treatment respo …
OBJECTIVE: Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (HNPP) are caused by mutati …
Clinical and molecular genetic characteristics of 24 families of hereditary neuropathy with liability to pressure palsy and literature review.
Cao W, Huang S, Zhao H, Li Z, Zhu X, Liu L, Zhang R. Cao W, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023 Oct 28;48(10):1572-1582. doi: 10.11817/j.issn.1672-7347.2023.230116. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 38432886 Free PMC article. Review. Chinese, English.
By reviewing clinical data and genetic testing results of reported 1 734 HNPP families, we found that heterozygous deletion mutation of PMP22 was the most common pathogenic mutation of HNPP (93.4%). ...By reviewing clinical data and genetic testing results of report …
By reviewing clinical data and genetic testing results of reported 1 734 HNPP families, we found that heterozygous deletion mutation …
Therapeutic potential of siRNA PMP22-SQ nanoparticles for Charcot-Marie-Tooth 1A neuropathy in rodents and non-human primates.
Boutary S, Khalaf G, Landesman Y, Madani ME, Desmaële D, Piguet F, Alonso R, Banchi EG, Adams D, Massaad C, Massaad-Massade L. Boutary S, et al. Int J Pharm. 2025 Feb 25;671:125234. doi: 10.1016/j.ijpharm.2025.125234. Epub 2025 Jan 22. Int J Pharm. 2025. PMID: 39855282 Free article.
Interestingly, the siRNA PMP22-SQ NPs reduced PMP22 mRNA expression by approximately 70 % and probably induced an early-stage hereditary neuropathy with pressure palsies (HNPP)-like condition in two normal NHP. No preliminary toxicity was observed in organs or blood parame …
Interestingly, the siRNA PMP22-SQ NPs reduced PMP22 mRNA expression by approximately 70 % and probably induced an early-stage hereditary neu …
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. Pabón Meneses RM, et al. Neurologia (Engl Ed). 2022 May;37(4):243-249. doi: 10.1016/j.nrleng.2019.02.012. Epub 2021 Apr 24. Neurologia (Engl Ed). 2022. PMID: 35595399 Free article.
METHODS: We retrospectively analysed the clinical and neurophysiological characteristics of 20 patients with genetically confirmed HNPP. Sixteen patients were studied in our department between 1996 and 2016. RESULTS: In addition to the typical characteristics of HNPP …
METHODS: We retrospectively analysed the clinical and neurophysiological characteristics of 20 patients with genetically confirmed HNPP …
Peripheral Myelin Protein 22 Gene Mutations in Charcot-Marie-Tooth Disease Type 1E Patients.
Jung NY, Kwon HM, Nam DE, Tamanna N, Lee AJ, Kim SB, Choi BO, Chung KW. Jung NY, et al. Genes (Basel). 2022 Jul 8;13(7):1219. doi: 10.3390/genes13071219. Genes (Basel). 2022. PMID: 35886002 Free PMC article.
Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), respectively, while point mutations or small insertions and deletions (indels) u …
Duplication and deletion of the peripheral myelin protein 22 (PMP22) gene cause Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary n …
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. Zhu J, et al. Medicine (Baltimore). 2022 Sep 23;101(38):e30768. doi: 10.1097/MD.0000000000030768. Medicine (Baltimore). 2022. PMID: 36197172 Free PMC article.
HNPP can be easily missed or misdiagnosed because of electrophysiological heterogeneity and atypical clinical symptoms. To date, diagnosis of HNPP remains a challenge for clinicians. PATIENT CONCERNS: Here, we report the case of a 12-year-old woman diagnosed with …
HNPP can be easily missed or misdiagnosed because of electrophysiological heterogeneity and atypical clinical symptoms. To date, diag …
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