Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain

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Hereditary neuropathy with liability to pressure palsies is an autosomal dominant disease that presents with focal neurological deficits in the territory of peripheral nerves. The usual cause is a deletion of 1.5 Mb at chromosome 17p11.2.It has been clear from several clinical series that other phen...

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Autor principal: Barroso, F.A
Otros Autores: Leiguarda, R., Nogués, M.A
Formato: Capítulo de libro
Lenguaje:Inglés
Publicado: 2006
Acceso en línea:Registro en Scopus
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Biblioteca Central Dr. Luis F. Leloir (FCEN) de Universidad de Buenos Aires
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100 1 |a Barroso, F.A. 
245 1 0 |a Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain 
260 |c 2006 
270 1 0 |m Barroso, F.A.; Department of Clinical Neurophysiology, Institute of Neurological Research, F.L.E.N.I., Montañeses 2325, (1428), Buenos Aires, Argentina; email: fbarroso@fleni.org.ar 
506 |2 openaire  |e Política editorial 
504 |a Chance, P., Alderson, M., Leppig, K., DNA deletion associated with hereditary neuropathy with liability to pressure palsies (1993) Cell, 72, pp. 143-151 
504 |a Pareyson, D., Scaioli, V., Taroni, F., Phenotypic heterogeneity in hereditary neuropathy with liability to pressure palsies associated with chromosome 17p11.2-12 deletion (1996) Neurology, 46, pp. 1133-1137 
504 |a Gouider, R., Leguern, E., Gugenheim, M., Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion (1995) Neurology, 45, pp. 2018-2023 
504 |a Mouton, P., Tardieu, S., Gouider, R., Spectrum of clinical and electrophysiologic features in hnpp patients with the 17p11.2 deletion (1999) Neurology, 52, pp. 1440-1446 
504 |a Verhagen, W., Gabreëls-Festen, A., Van Wensen, P., Hereditary neuropathy with liability to pressure palsies: A clinical, electroneurophysiological and morphological study (1993) J Neurol Sci, 116, pp. 176-184 
504 |a Simonetti, S., Lesion of the anterior branch of axillary nerve in a patient with hereditary neuropathy with liability to pressure palsies (2000) Eur J Neurol, 7, pp. 577-579 
504 |a Lynch, J., Hennessy, M., HNPP presenting as sciatic neuropathy (2005) J Periph Nerv Syst, 10, pp. 1-2 
504 |a Corwin, H., Girardet, R., Hereditary neuropathy with liability to pressure palsies mimicking hypoglossal nerve injuries (2003) Neurology, 61, pp. 1457-1458 
504 |a Ohkoshi, N., Ohno, Y., Hayashi, A., Acute vocal cord paralysis in hereditary neuropathy with liability to pressure palsies (2001) Neurology, 56, p. 1415 
504 |a Koehler, P., Hereditary neuropathy with liability to pressure palsies the first publication (1947) (2003) Neurology, 60, pp. 1211-1213 
504 |a Verma, A., Neuropathic scapuloperoneal syndrome (Davidenkow's syndrome) with chromosome 17p11.2 deletion (2005) Muscle Nerve, 32, pp. 668-671 
504 |a Horowitz, S., Spollen, L., Yu, W., Hereditary neuropathy with liability to pressure palsy: Fulminant development with axonal loss during military training (2004) J Neurol Neurosurg Psychiatry, 75, pp. 1629-1631 
504 |a Jeannet, P., Watts, G., Bird, T., Craniofacial and cutaneous findings expand the phenotype of hereditary neuralgic amyotrophy (2001) Neurology, 57, pp. 1963-1968 
504 |a Seror, P., Isolated sensory manifestations in neuralgic amyotrophy: Report of eight cases (2004) Muscle Nerve, 29, pp. 134-138 
504 |a Van Alfen, N., Van Engelen, B., The clinical spectrum of neuralgic amyotrophy in 246 cases (2006) Brain, 129, pp. 438-450 
504 |a Kuhlembaüer, G., Hannibal, M., Nelis, E., Mutations in SEPT9 cause hereditary neuralgic amyotrophy (2005) Nat Genet, 37, pp. 1044-1046 
504 |a Lenssen, P., Gabreëls-Festen, A., Valentijn, L., Hereditary neuropathy with liability to pressure palsies phenotypic differences between patients with the common deletion and a pmp22 frame shift mutation (1998) Brain, 121, pp. 1451-1458 
504 |a Andersson, P., Yuen, E., Parko, K., So, Y., Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies (2000) Neurology, 54, pp. 40-50 
504 |a Li, J., Krajewski, K., Shy, M., Hereditary neuropathy with liability to pressure palsy. The electrophysiology fits the name (2002) Neurology, 58, pp. 1769-1773 
504 |a Koike, H., Hirayama, M., Yamamoto, M., Age associated axonal features in HNPP with 17p11.2 deletion in Japan (2005) J Neurol Neurosurg Psychiatry, 76, pp. 1109-1111 
520 3 |a Hereditary neuropathy with liability to pressure palsies is an autosomal dominant disease that presents with focal neurological deficits in the territory of peripheral nerves. The usual cause is a deletion of 1.5 Mb at chromosome 17p11.2.It has been clear from several clinical series that other phenotypes, such as isolated sensory deficits, chronic mononeuropathies, motor sensory neuropathies like CMT1A, polyneuropathy like CIDP, and Davidenkow's syndrome, may also occur in affected families.In this report, the authors present a new family with hereditary neuropathy with liability to pressure palsies (HNPP) in which one of the members suffered recurrent episodes of pain in the territory of peripheral nerve trunks along with generalized conduction nerve abnormalities and the common deletion of 1.5 Mb at 17p12.1.On this basis, the authors propose that HNPP should be considered in the differential diagnosis of painful multiple mononeuropathy. © 2006 Lippincott Williams & Wilkins, Inc.  |l eng 
593 |a Department of Clinical Neurophysiology, Raul Carrea Institute of Neurological Research, F.L.E.N.I., Buenos Aires, Argentina 
593 |a Department of Neurology, Raul Carrea Institute of Neurological Research, F.L.E.N.I., Buenos Aires, Argentina 
593 |a Department of Clinical Neurophysiology, Institute of Neurological Research, F.L.E.N.I., Montañeses 2325, (1428), Buenos Aires, Argentina 
690 1 0 |a CMT1A 
690 1 0 |a HNPP 
690 1 0 |a PRESSURE PALSY 
690 1 0 |a TOMACULA 
690 1 0 |a ADULT 
690 1 0 |a ARTICLE 
690 1 0 |a CASE REPORT 
690 1 0 |a CLINICAL FEATURE 
690 1 0 |a FEMALE 
690 1 0 |a GENE DELETION 
690 1 0 |a HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSY 
690 1 0 |a HUMAN 
690 1 0 |a MONONEUROPATHY 
690 1 0 |a NERVE CONDUCTION 
690 1 0 |a NEUROPATHIC PAIN 
690 1 0 |a NEUROPATHY 
690 1 0 |a PERIPHERAL NERVE 
690 1 0 |a PHENOTYPE 
690 1 0 |a POLYNEUROPATHY 
690 1 0 |a PRIORITY JOURNAL 
690 1 0 |a RECURRENT DISEASE 
690 1 0 |a SENSORY DYSFUNCTION 
690 1 0 |a SENSORY NEUROPATHY 
700 1 |a Leiguarda, R. 
700 1 |a Nogués, M.A. 
773 0 |d 2006  |g v. 8  |h pp. 26-30  |k n. 1  |p J. Clin. Neuromuscular Dis.  |x 15220443  |t Journal of Clinical Neuromuscular Disease 
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856 4 0 |u https://doi.org/10.1097/01.cnd.0000245217.93797.a3  |y DOI 
856 4 0 |u https://hdl.handle.net/20.500.12110/paper_15220443_v8_n1_p26_Barroso  |y Handle 
856 4 0 |u https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_15220443_v8_n1_p26_Barroso  |y Registro en la Biblioteca Digital 
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999 |c 82721 

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