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

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

Risultato della ricerca: Contributo in rivistaArticolo 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 originaleEnglish
pagine (da-a)46-50
Numero di pagine5
RivistaJournal of the Neurological Sciences
Volume341
DOI
Stato di pubblicazionePubblicato - 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

Fingerprint Entra nei temi di ricerca di 'Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience'. Insieme formano una fingerprint unica.

Cita questo