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; Angela 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, Angela Romano, Marcella Zollino, Paolo Maria Rossini, Mario Sabatelli

Risultato della ricerca: Contributo in rivista › Articolo in rivista

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

Keywords

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

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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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author = "Marco Luigetti and {Del Grande}, Alessandra and Amelia Conte and {Lo Monaco}, Mauro and Giulia Bisogni and Angela Romano and Marcella Zollino and Rossini, {Paolo Maria} and Mario Sabatelli",

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doi = "10.1016/j.jns.2014.03.046",

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journal = "Journal of the Neurological Sciences",

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T1 - Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience

AU - Luigetti, Marco

AU - Del Grande, Alessandra

AU - Conte, Amelia

AU - Lo Monaco, Mauro

AU - Bisogni, Giulia

AU - Romano, Angela

AU - Zollino, Marcella

AU - Rossini, Paolo Maria

AU - Sabatelli, Mario

PY - 2014

Y1 - 2014

N2 - 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.

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.

KW - Adolescent

KW - Adult

KW - Aged

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 17

KW - Clinical phenotype

KW - Cohort Studies

KW - Female

KW - Hereditary Sensory and Motor Neuropathy

KW - Hereditary neuropathy with liability to pressure palsies (HNPP)

KW - Humans

KW - Inherited neuropathy

KW - Male

KW - Middle Aged

KW - Neural Conduction

KW - Neurophysiology

KW - Peripheral Nerves

KW - Sural nerve biopsy

KW - Tomaculae

KW - Young Adult

KW - Adolescent

KW - Adult

KW - Aged

KW - Chromosome Deletion

KW - Chromosomes, Human, Pair 17

KW - Clinical phenotype

KW - Cohort Studies

KW - Female

KW - Hereditary Sensory and Motor Neuropathy

KW - Hereditary neuropathy with liability to pressure palsies (HNPP)

KW - Humans

KW - Inherited neuropathy

KW - Male

KW - Middle Aged

KW - Neural Conduction

KW - Neurophysiology

KW - Peripheral Nerves

KW - Sural nerve biopsy

KW - Tomaculae

KW - Young Adult

UR - http://hdl.handle.net/10807/63935

U2 - 10.1016/j.jns.2014.03.046

DO - 10.1016/j.jns.2014.03.046

M3 - Article

SN - 0022-510X

VL - 341

SP - 46

EP - 50

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

ER -

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

Abstract

Keywords

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