Hereditary Neuropathy with Liability to Pressure Palsies

Overview

Journal Pediatr Neurol Briefs

Specialty Neurology

Date 2016 Mar 3

PMID 26933540

Citations 2

Authors

Hyoung Won Choi

Nancy L Kuntz

Affiliations

Soon will be listed here.

Abstract

Investigators from 4 pediatric hospitals in Canada analyzed the clinical presentation and electrophysiological data of 12 children with hereditary neuropathy with liability to pressure palsies (HNPP), caused by PMP22 gene deletion.

Citing Articles

Advances for pediatricians in 2022: allergy, anesthesiology, cardiology, dermatology, endocrinology, gastroenterology, genetics, global health, infectious diseases, metabolism, neonatology, neurology, oncology, pulmonology.

Caffarelli C, Santamaria F, Piro E, Basilicata S, DAntonio L, Tchana B Ital J Pediatr. 2023; 49(1):115.

PMID: 37679850 PMC: 10485969. DOI: 10.1186/s13052-023-01522-8.

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 Ital J Pediatr. 2022; 48(1):84.

PMID: 35658923 PMC: 9164845. DOI: 10.1186/s13052-022-01280-z.

References

Saporta A, Sottile S, Miller L, Feely S, Siskind C, Shy M . Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011; 69(1):22-33. PMC: 3058597. DOI: 10.1002/ana.22166. View

Potulska-Chromik A, Sinkiewicz-Darol E, Ryniewicz B, Lipowska M, Kabzinska D, Kochanski A . Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy. Muscle Nerve. 2014; 50(6):914-8. DOI: 10.1002/mus.24250. View

Chance P, Alderson M, Leppig K, Lensch M, Matsunami N, Smith B . DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993; 72(1):143-51. DOI: 10.1016/0092-8674(93)90058-x. View