Classic clinical manifestations of HNPP are characterized by recurrent painless mononeuropathies, but a minority of patients present with an atypical clinical pattern, including CMT-like neuropathy, acute or chronic inflammatory demyelinating neuropathy-like polyneuropathy, and carpal tunnel syndrome. Electrophysiological examination plays a central role in the diagnosis of HNPP, disclosing a non-uniform conduction slowing, more pronounced at entrapment sites.
Luigetti, M., Del Grande, A., Conte, A., Lo Monaco, M., Bisogni, G., Romano, A., Zollino, M., Rossini, P. M., Sabatelli, 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] [http://hdl.handle.net/10807/63935]
Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience
Luigetti, Marco;Del Grande, Alessandra;Conte, Amelia;Lo Monaco, Mauro;Bisogni, Giulia;Zollino, Marcella;Rossini, Paolo Maria;Sabatelli, Mario
2014
Abstract
Classic clinical manifestations of HNPP are characterized by recurrent painless mononeuropathies, but a minority of patients present with an atypical clinical pattern, including CMT-like neuropathy, acute or chronic inflammatory demyelinating neuropathy-like polyneuropathy, and carpal tunnel syndrome. Electrophysiological examination plays a central role in the diagnosis of HNPP, disclosing a non-uniform conduction slowing, more pronounced at entrapment sites.
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