ReviewJournal of neurology2024
Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies.
Review in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- Spectrum of Hereditary Neuropathies in Adult Patients From Serbia.Journal of the peripheral nervous system : JPNS · 2026Article
- Peripheral Myelin Protein-22 and Its Prominence in Charcot-Marie-Tooth Disease.Chemical reviews · 2026Review
- Advances in PMP22 sequence variant-associated hereditary neuropathy with liability to pressure palsies: from gene dosage effects to mechanism-informed variant interpretation.Frontiers in neurology · 2026Review
- Unraveling the Overlapping Spectrum of Hereditary Neuropathies: Clinical and Genetic Insights From the UAE.Cureus · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
This review summarizes the clinical and electromyography (EMG) characteristics and peripheral myelin protein 22 (PMP22) gene-related diseases of hereditary neuropathy with liability to pressure palsies (HNPP). Clinical, EMG, and laboratory data of patients diagnosed with HNPP at our institution from 2022 to 2023 were retrospectively reviewed. Relevant literature from January 2003 to June 2024 was retrieved from PubMed using the keywords "hereditary neuropathy with liability to pressure palsies" and "HNPP." Clinical manifestations, EMG characteristics, and gene detection results of HNPP were summarized. All patients exhibited transient neurological symptoms and tested positive for the PMP22 deletion. EMG revealed multiple peripheral nerve abnormalities. Sixty-eight studies meeting the inclusion and exclusion criteria were included, comprising 124 HNPP cases (including six from our study), with 67 males and 57 females. The mean age of onset and diagnosis for the 124 cases were 26.5 ± 18 years and 32.7 ± 18.9 years, respectively, with a maximum onset-to-diagnosis interval of 40 years. Typical weakness and numbness in vulnerable areas were observed in 63.7% of cases, with 62% experiencing recurrent episodes. Atypical symptoms were present in 29.8%, while 6.5% were asymptomatic. Patients exhibited pain and muscular dystrophy (17.7%), pes cavus (12.1%), and a family history of HNPP (64.5%). Among symptomatic patients, triggers were traction or compression (57.8%), temperature changes (3.4%), or unclear (38.8%). Heterozygous PMP22 deletions and other PMP22 gene mutations were found in 77.4% and 22.6% of cases, respectively.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.