Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience

Marco Luigetti; Alessandra Del Grande; Amelia Conte; Mauro Lo Monaco; Giulia Bisogni; A Romano; Marcella Zollino; Paolo Maria Rossini; Mario Sabatelli

doi:10.1016/j.jns.2014.03.046

Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience

Marco Luigetti^*
, Alessandra Del Grande
, Amelia Conte
, Mauro Lo Monaco
, Giulia Bisogni
, A Romano
, Marcella Zollino
, Paolo Maria Rossini
, Mario Sabatelli

^*Autore corrispondente per questo lavoro

IRCCS Foundation Rome

Risultato della ricerca: Contributo in rivista › Articolo

26 Citazioni (Scopus)

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.

Lingua originale	Inglese
pagine (da-a)	46-50
Numero di pagine	5
Rivista	Journal of the Neurological Sciences
Volume	341
Numero di pubblicazione	1-2
DOI	https://doi.org/10.1016/j.jns.2014.03.046
Stato di pubblicazione	Pubblicato - 2014

All Science Journal Classification (ASJC) codes

Neurologia
Neurologia (clinica)

Keywords

Adolescent
Adult
Aged
Chromosome Deletion
Chromosomes
Clinical phenotype
Cohort Studies
Female
Hereditary Sensory and Motor Neuropathy
Hereditary neuropathy with liability to pressure palsies (HNPP)
Human
Humans
Inherited neuropathy
Male
Middle Aged
Neural Conduction
Neurophysiology
Pair 17
Peripheral Nerves
Sural nerve biopsy
Tomaculae
Young Adult

Accesso al documento

10.1016/j.jns.2014.03.046

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title = "Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience",

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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AU - Luigetti, Marco

AU - Del Grande, Alessandra

AU - Conte, Amelia

AU - Lo Monaco, Mauro

AU - Bisogni, Giulia

AU - Romano, A

AU - Zollino, Marcella

AU - Rossini, Paolo Maria

AU - Sabatelli, Mario

PY - 2014

Y1 - 2014

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AB - 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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KW - Clinical phenotype

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Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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