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Abstract:

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.

Registro:

Documento: Artículo
Título:Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain
Autor:Barroso, F.A.; Leiguarda, R.; Nogués, M.A.
Filiación:Department of Clinical Neurophysiology, Raul Carrea Institute of Neurological Research, F.L.E.N.I., Buenos Aires, Argentina
Department of Neurology, Raul Carrea Institute of Neurological Research, F.L.E.N.I., Buenos Aires, Argentina
Department of Clinical Neurophysiology, Institute of Neurological Research, F.L.E.N.I., Montañeses 2325, (1428), Buenos Aires, Argentina
Palabras clave:CMT1A; HNPP; Pressure palsy; Tomacula; adult; article; case report; clinical feature; female; gene deletion; hereditary neuropathy with liability to pressure palsy; human; mononeuropathy; nerve conduction; neuropathic pain; neuropathy; peripheral nerve; phenotype; polyneuropathy; priority journal; recurrent disease; sensory dysfunction; sensory neuropathy
Año:2006
Volumen:8
Número:1
Página de inicio:26
Página de fin:30
DOI: http://dx.doi.org/10.1097/01.cnd.0000245217.93797.a3
Título revista:Journal of Clinical Neuromuscular Disease
Título revista abreviado:J. Clin. Neuromuscular Dis.
ISSN:15220443
CODEN:JCNDC
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_15220443_v8_n1_p26_Barroso

Referencias:

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Citas:

---------- APA ----------
Barroso, F.A., Leiguarda, R. & Nogués, M.A. (2006) . Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain. Journal of Clinical Neuromuscular Disease, 8(1), 26-30.
http://dx.doi.org/10.1097/01.cnd.0000245217.93797.a3
---------- CHICAGO ----------
Barroso, F.A., Leiguarda, R., Nogués, M.A. "Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain" . Journal of Clinical Neuromuscular Disease 8, no. 1 (2006) : 26-30.
http://dx.doi.org/10.1097/01.cnd.0000245217.93797.a3
---------- MLA ----------
Barroso, F.A., Leiguarda, R., Nogués, M.A. "Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain" . Journal of Clinical Neuromuscular Disease, vol. 8, no. 1, 2006, pp. 26-30.
http://dx.doi.org/10.1097/01.cnd.0000245217.93797.a3
---------- VANCOUVER ----------
Barroso, F.A., Leiguarda, R., Nogués, M.A. Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain. J. Clin. Neuromuscular Dis. 2006;8(1):26-30.
http://dx.doi.org/10.1097/01.cnd.0000245217.93797.a3