Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion

Aline Pinheiro Martins de Oliveira; Raquel Campos Pereira; Patrícia Toscano Onofre; Vanessa Daccach Marques; Gilberto Brown de Andrade; Amilton Antunes Barreira; Wilson Marques Junior

doi:10.1590/0004-282X20160010

Arquivos de Neuro-Psiquiatria, Table of Contents

CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2016; 74(02): 99-105
DOI: 10.1590/0004-282X20160010

ARTICLE

Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion

Aspectos clínicos e neurofisiológicos de pacientes com a neuropatia hereditária com a susceptibilidade à pressão associada à deleção 17p11.2

Authors

Aline Pinheiro Martins de Oliveira

Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
Raquel Campos Pereira

Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
Patrícia Toscano Onofre

Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
Vanessa Daccach Marques

Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
Gilberto Brown de Andrade

Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
Amilton Antunes Barreira

Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.
Wilson Marques Junior

Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Departamento de Neurociências e Ciências do Comportamento, Ribeirao Preto SP, Brazil.

Abstract

ABSTRACT

The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies.

Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities.

Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients.

Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy.

Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.

RESUMO

A neuropatia hereditária com susceptibilidade à pressão (HNPP) é uma doença autossçmica dominante que manifesta mononeuropatias recorrentes.

Objetivo Avaliar as características clínicas e os estudos da condução nervosa (ECN) procurando particularidades diagnósticas.

Método Revisamos as características clínicas de 39 e os ECN de 33 pacientes.

Resultados História familiar ausente em 16/39 (41%). As manifestações iniciais foram: fraqueza em 24, dor em 6, déficit sensitivo em 5 e parestesias em 4. Dor foi referida por outros 3 pacientes. Os seguintes padrões de neuropatia foram observados: mononeuropatia múltipla (26), mononeuropatia (6), polineuropatia sensitivo-motora (4), polineuropatia sensitiva (1) e plexopatia braquial unilateral (1). Os ECN mostraram uma neuropatia sensitivo-motora com redução focal da velocidade de condução em 31, dois tinham mononeuropatia e outro plexopatia braquial.

Conclusão A apresentação da HNPP é variável e pode incluir dor. O padrão mais frequente é o de uma neuropatia sensitivo-motora assimétrica com alentecimentos focais da condução em topografias específicas nos ECN.

hereditary neuropathy with liability to pressure palsies - peripheral neuropathy - nerve conduction study - pain

neuropatia hereditária com susceptibilidade à pressão - neuropatia periférica - estudos da condução nervosa - dor

Full Text

References

References
1 Amato AA, Gronseth GS, Callerame KJ, Kagan-Hallet KS, Bryan WW, Barohn RJ. Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5Mb deletions in chromosome 17p11.2. Muscle Nerve. 1996;19(1):16-22. doi:10.1002/(SICI)1097-4598(199601)19:1<16::AID-MUS3>3.0.CO;2-B
2 Mouton P, Tardieu S, Gouider R, Birouk N, Maisonobe T, Dubourg O et al. Spectrum of clinical and eletrophysiologic features in HNPP patients with the 17 p11.2 deletion. Neurology. 1999;52(7):1440-6. doi:10.1212/WNL.52.7.1440
3 Infante J, Garcia A, Combarroso O, Mateio JI, Berciano J, Sedano MJ et al. Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion. Muscle Nerve. 2001;24(9):1149-55. doi:10.1002/mus.1126
4 Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B et al. 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
5 Li J, Parker B, Martyn C, Natarajan C, Guo J. The PMP-22 gene and its related diseases. Mol Neurobiol. 2013;47(2):673-98. doi:10.1007/s12035-012-8370-x
6 Lupski JR, Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991;66(2):219-32. doi:10.1016/0092-8674(91)90613-4
7 Li J, Krajewski K, Lewis RA, Shy ME. Loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle Nerve. 2004;29(2):205-10. doi:10.1002/mus.10521
8 Lewis RA, Sumner AJ, Shy M. Electrophysiological features of inherited demyelinating neuropathies: reappraisal in the era of molecular diagnosis. Muscle Nerve. 2000;23(10):1472-87. doi:10.1002/1097-4598(200010)23:10<1472::AID-MUS3>3.0.CO;2-#
9 Marques W Jr, Freitas MR, Nascimento OJM, Oliveira AB, Calia L, Melo A et al. 17p duplicated Charcot-Marie-Tooth 1A. Characteristics of a new population. J Neurol. 2005;252(8):972-9. doi:10.1007/s00415-005-0797-9
10 Uncini A, Guglielmo G, Muzio A, Gambi D, Sabatelli M, Mignogna T et al. Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication. Muscle Nerve. 1995;18(6):628-35. doi:10.1002/mus.880180610
11 Pareyson D, Scaioli S, Taroni F, Botti S, Lorenzetti D, Solari A et al. Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion. Neurology. 1996;46(4):1133-7. doi:10.1212/WNL.46.4.1133
12 Li J, Krajewski K, Shy ME, Lewis RA. Hereditary neuropathy with liability to pressure palsy. The electrophysiology fits the name. Neurology. 2002;58(12):1769-73. doi:10.1212/WNL.58.12.1769
13 Hong YH, Kim M, Kim HJ, Sung JJ, Kim SH, Lee KW. Clinical and electrophysiologic features of patients with 17p11.2 deletion. Acta Neurol Scand. 2003;108(5):352-8. doi:10.1034/j.1600-0404.2003.00132.x
14 Lenssen P. Hereditary neuropathy with liability to pressure palsy: phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain. 1998;121(8):1451-8. doi:10.1093/brain/121.8.1451
15 Gouider R, LeGuern E, Gugenheim M, Tardieu S, Maisonobe T, Leger JM et al. Clinical, eletrophysiologic and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a cromossome 17p11.2 deletion. Neurology. 1995;45(11):2018-23. doi:10.1212/WNL.45.11.2018
16 Dubourg O, Mouton P, Brice A, LeGuern E, Bouche P. Guidelines for diagnosis of hereditary neuropathy with liability to pressure palsies. Neuromuscular Disord. 2000;10(3):206-8. doi:10.1016/S0960-8966(99)00103-0
17 Nogués M, Barroso F, Rivero A, et al. Pain: unusual presentation of hereditary neuropathy with liability to pressure palsies (HNPP). Posters/Clin Neurophysiol. 2006;117:S121-336.
18 Yurrebaso I, Casado OL, Barcena J, Perez de Nanclares G, 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. Neuromusc Disord. 2014;24(1):56-62. doi:10.1016/j.nmd.2013.09.005
19 Yilmaz U, Bird T, Carter G, Wang LH, Weiss MD. Pain in hereditary neuropathy with liability to pressure palsy: an association with fibromyalgia syndrome? Muscle Nerve. 2015;51(3):385-90. doi:10.1002/mus.24331
20 Verhagen WI, Gabreels-Festen AA, Wensen PJ, Joosten EM, Vingerhoets HM, Gabreëls FJ et al. Hereditary neuropathy with liability to pressure palsy: clinical, electroneurophysiological and morphological study. J Neurol Sciences. 1993;116(2):176-84. doi:10.1016/0022-510X(93)90323-Q
21 Cruz-Martinez A, Bort S, Arpa J, Duarte J, Palau F. Clinical, genetic and electrophysiologic correlation in hereditary neuropathy with liability to pressure palsies with involvement of PMP22 gene at chromosome 17p11.2. Eur J Neurol. 1997;4(3):274-86. doi:10.1111/j.1468-1331.1997.tb00347.x
22 Andersson PB, Yuen E, Parko K, So YT. Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology. 2000;54(1):40-4. doi:10.1212/WNL.54.1.40
23 Luigetti M, Grande AD, Conte A, Lo Monaco M, Bisogni G, Romano A et al. Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience. J Neurol Sci. 2014;341(1-2):46-50. doi:10.1016/j.jns.2014.03.046
24 Merejota P, Silander K, Kalinmo H, Aula P, Meretoja A, Savontaus ML. Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland. Neuromuscul Disord. 1997;(8):529-32. doi:10.1016/S0960-8966(97)00100-4
25 Lorenzoni PJ, Scola RH, Cardoso J, Kay CS, Fugmann EA, Marques W Jr et al. Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies. Arq Neuropsiquiatr. 2008;66(4):898-900. doi:10.1590/S0004-282X2008000600027
26 Malamut RI, Marques W, Sumner AJ. Postsurgical Idiopathic Brachial Neuritis. Muscle Nerve. 1994;17(3):320-4. doi:10.1002/mus.880170310
27 Simmons Z. Electrodiagnosis of brachial plexopathies and proximal upper extremity neuropathies. Phys Med Rehabil Clin N Am. 2013;24(1):13-32. doi:10.1016/j.pmr.2012.08.021
28 Sellmann MS, Mayer RF. Conduction block in hereditary neuropathy with liability to pressure palsies. Muscle Nerve. 1987;10(7):621-5.