Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies

Asadchuk T.V.

Republican Scientific and Practical Medical Center «Mother and Child», Minsk, Belarus

Rumiantseva N.V.

Republican Scientific and Practical Medical Center «Mother and Child», Minsk, Belarus

Naumchik I.V.

Republican Scientific and Practical Medical Center «Mother and Child», Minsk, Belarus

Likhachev S.A.

Respublikanskiĭ nauchno-prakticheskiĭ tsentr nevrologii i neĭrokhirurgii Ministerstva zdravookhraneniia Respubliki Belarus', Minsk

Pleshko I.V.

Republican Scientific and Practical Center of Neurology and Neurosurgery, Minsk, Belarus

Shalkevich L.V.

Belarusian Medical Academy of Postgraduate Education, Minsk, Belarus

Jevneronok I.V.

Belarusian Medical Academy of Postgraduate Education, Minsk, Belarus

Kachan J.P.

Republican Scientific and Practical Medical Center «Mother and Child», Minsk, Belarus

Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies

Authors:

Asadchuk T.V., Rumiantseva N.V., Naumchik I.V., Likhachev S.A., Pleshko I.V., Shalkevich L.V., Jevneronok I.V., Kachan J.P.

More about the authors

Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2016;116(1): 64‑69

DOI: 10.17116/jnevro20161161164-69

Read: 1445 times

Download PDF (RU)

Contact the author

Table of contents

To cite this article:

Asadchuk TV, Rumiantseva NV, Naumchik IV, et al. . Molecular genetic diagnosis and clinical features of hereditary neuropathy with liability to pressure palsies. S.S. Korsakov Journal of Neurology and Psychiatry. 2016;116(1):64‑69. (In Russ.)
https://doi.org/10.17116/jnevro20161161164-69

Подписка 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)

Использование инфографики авторами научных работ

Close metadata

Objective — to analyze the molecular defect, a phenotype of hereditary neuropathy with liability to pressure palsies (HNPP, OMIM 162500), in patients with PMP22 gene mutation caused by 1.5 Mb deletion at 17p11.2. and present the principles of diagnosis and genetic counselling. Material and methods. Patients were selected on the basis of the results of the clinical/genealogical analysis, neurological examination and ENMG study. Genomic DNA was isolated from peripheral blood leukocytes. Results and conclusion. DNA diagnosis was performed in 5 families (the PMP22 deletion was found in 9 patients). The authors described clinical and electrophysiological characteristics and presented a diagnostic protocol. Identification of the mutation makes it possible to confirm the clinical diagnosis, assess genetic risks for the outcome and perform a prenatal DNA diagnosis in HNPP families.

Keywords:

hereditary neuropathy with liability to pressure palsies (HNPP)

PMP22 gene

17p112 deletion

Authors:

Asadchuk T.V.

Republican Scientific and Practical Medical Center «Mother and Child», Minsk, Belarus

Rumiantseva N.V.

Republican Scientific and Practical Medical Center «Mother and Child», Minsk, Belarus

Naumchik I.V.

Republican Scientific and Practical Medical Center «Mother and Child», Minsk, Belarus

Likhachev S.A.

Respublikanskiĭ nauchno-prakticheskiĭ tsentr nevrologii i neĭrokhirurgii Ministerstva zdravookhraneniia Respubliki Belarus', Minsk

Pleshko I.V.

Republican Scientific and Practical Center of Neurology and Neurosurgery, Minsk, Belarus

Shalkevich L.V.

Belarusian Medical Academy of Postgraduate Education, Minsk, Belarus

Jevneronok I.V.

Belarusian Medical Academy of Postgraduate Education, Minsk, Belarus

Kachan J.P.

Republican Scientific and Practical Medical Center «Mother and Child», Minsk, Belarus

List of references:

Chance P. Overview of hereditary neuropathy with liability to pressure palsies. Annals of the New York Academy of Sciences. 1999;883:14-21. doi: 10.1111/j.1749-6632.1999.tb08562.x.
Chance P, Alderson M, Leppig K, Lensch MW, Matsunami N, Smith B, Swanson PD, Odelberg SJ, Disteche CM, Bird TD. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell. 1993;72:1:143-151. doi: 10.1016/0092-8674(93)90058-x.
Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A. Estimation of the mutation frequencies in Charcot—Marie—Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. European Journal of Human Genetics. 1996;4:1:25-33.
The Mutation Database of Inherited Peripheral Neuropathies (electronic resource). Available at: http://www.molgen.ua.ac.be/CMTMutations. (accessed 16 February 2015).
Resko P, Radvansky J, Odnogova Z, Baldovic M, Minarik G, Polakova H, Pallfy R, Kadasi L. Mutation analysis of PMP22 in Slovak patients with Charcot—Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. General physiology and biophysics. 2011;30:4:379-388. doi: 10.4149/gpb_2011_04_379.
Li X, Zi X, Li L, Zhan Y, Huang S, Li J, Li X, Li X, Hu Z, Xia K, Tang B, Zhang R. Rapid genetic screening of Charcot—Marie—Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies patients. Neural RegenerationResearch. 2012;7:32:2522-2527.
Badano J, Inoue K, Katsanis N, Lupski J. New polymorphic short tandem repeats for PCR-based Charcot—Marie—ToothDisease type 1A duplication diagnosis. Clinical Chemistry. 2001;47:838-843.
Casasnovas C, Banchs I, de Jorge L, Alberti MA, Martinez-Campo Y, Povedano M, Montero J, Volpini V. A novel small deletion in PMP22 causes a mild hereditary neuropathy with liability to pressure palsies phenotype. Muscle & Nerve. 2012;45:1:135-138. doi: 10.1002/mus.22201.
Brozkova D, Mazanec R, Rychly Z, Haberlova J, Böhm J, Stanek J, Plevova P, Lisonova J, Sabova J, Sakmaryova I, Seeman P. Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy. Muscle &Nerve. 2011;44:5:819-822. doi: 10.1002/mus.22189.
Levin O.S. Nasledstvennye polinevropatii. M.: MIA; 2006.
Rana AQ, Masroor MS. Hereditary neuropathy with liability to pressure palsy: a brief review with a case report. International Journal of Neuroscience. 2012;122:3:119-123. doi: 10.3109/00207454.2011.633719.
Manganelli F, Pisciotta C, Dubbioso R, Maruotti V, Iodice R, Notturno F, Ruggiero L, Vitale C, Nolano M, Uncini A, Santoro L. Electrophysiological comparison between males and females in HNPP. Journal of the NeurologicalSciences. 2013;34:8:1429-1432. doi: 10.1007/s10072-012-1258-8.
Luigetti M, del Grande A, Conte A, lo Monaco M, Bisogni G, Romano A, Zollino M, Rossini PM, Sabatellia M. Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience. Journal of the Neurological Sciences. 2014;341:1-2:46-50. doi: 10.1016/j.jns.2014.03.046.
Farrar MA, Park SB, Krishnan AV, Kiernan MC, Lin CS-Y. Axonal dysfunction, dysmyelination, and conduction failure in hereditary neuropathy with liability to pressure palsies. Muscle & Nerve. 2014;49:6:858-865. doi: 10.1002/mus.24085.
Pareyson D, Scaioli V, Taroni F, Botti S, Lorenzetti D, Solari A, Ciano C, Sghirlanzoni A. Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion. Neurology. 1996;46:4:1133-1137. doi: 10.1212/wnl.46.4.1133.
Yurrebaso I, Casado OL, Barcena J, de Nanclares GP, Aguirre U. Clinical, electrophysiological and magnetic resonance findings in a family with hereditary neuropathy with liability to pressure palsies caused by a novel PMP22 mutation. Neuromuscular Disorders. 2014;24:1:56-62. doi: 10.1016/j.nmd.2013.09.005.
Illarioshkin S.N., Ivanova-Smolenskaya I.A., Markova E.D. DNK-diagnostika nasledstvennykh monogennykh boleznei nervnoi sistemy. DNK-diagnostika i mediko-geneticheskoe konsul'tirovanie v nevrologii. M.: MIA; 2002;176-188.
van Passen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M. PMP22 related neuropathies: Charcot—Marie—Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. Orphanet Journal of Rare Diseases. 2014;9:38:1-15. doi: 10.1186/1750-1172-9-38.

Close metadata