Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain
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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todo:paper_15220443_v8_n1_p26_Barroso2023-10-03T16:20:40Z Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain Barroso, F.A. Leiguarda, R. Nogués, M.A. 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 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. JOUR info:eu-repo/semantics/openAccess http://creativecommons.org/licenses/by/2.5/ar http://hdl.handle.net/20.500.12110/paper_15220443_v8_n1_p26_Barroso |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
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 |
| spellingShingle |
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 Barroso, F.A. Leiguarda, R. Nogués, M.A. Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain |
| topic_facet |
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 |
| description |
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. |
| format |
JOUR |
| author |
Barroso, F.A. Leiguarda, R. Nogués, M.A. |
| author_facet |
Barroso, F.A. Leiguarda, R. Nogués, M.A. |
| author_sort |
Barroso, F.A. |
| title |
Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain |
| title_short |
Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain |
| title_full |
Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain |
| title_fullStr |
Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain |
| title_full_unstemmed |
Hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain |
| title_sort |
hereditary neuropathy with liability to pressure palsies manifesting by recurrent neuropathic pain |
| url |
http://hdl.handle.net/20.500.12110/paper_15220443_v8_n1_p26_Barroso |
| work_keys_str_mv |
AT barrosofa hereditaryneuropathywithliabilitytopressurepalsiesmanifestingbyrecurrentneuropathicpain AT leiguardar hereditaryneuropathywithliabilitytopressurepalsiesmanifestingbyrecurrentneuropathicpain AT noguesma hereditaryneuropathywithliabilitytopressurepalsiesmanifestingbyrecurrentneuropathicpain |
| _version_ |
1807320147933790208 |