title: Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome.
abstract: BACKGROUND
  SPOAN (spastic paraplegia, optic atrophy, and neuropathy) syndrome is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family.
  
  
  METHODS
  Twenty-seven patients with SPOAN syndrome (20 women), aged 4-58 years, underwent nerve conduction studies (NCS) of the median, ulnar, tibial, and fibular nerves, and sensory NCS of the median, ulnar, radial, sural, and superficial fibular nerves.
  
  
  RESULTS
  Sensory nerve action potentials were absent in the lower limbs and absent in >80% of upper limbs. Motor NCS had reduced amplitudes and borderline velocities in the upper limbs and absent compound muscle action potentials (CMAPs) in the lower limbs.
  
  
  CONCLUSIONS
  The neuropathy in SPOAN syndrome is a severe, early-onset sensory-motor axonal polyneuropathy. Normal NCS seem to rule-out this condition.
authors.affiliation: Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.
authors.forename: Simone
authors.initials: S
authors.lastname: Amorim
authors.forename: Carlos Otto
authors.initials: CO
authors.lastname: Heise
authors.forename: Silvana
authors.initials: S
authors.lastname: Santos
authors.forename: Lúcia Ines
authors.initials: LI
authors.lastname: Macedo-Souza
authors.forename: Mayana
authors.initials: M
authors.lastname: Zatz
authors.forename: Fernando
authors.initials: F
authors.lastname: Kok
mesh_terms: D000200:Action Potentials / Q000502:physiology*; D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D020271:Heredodegenerative Disorders, Nervous System / Q000208:ethnology / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D008875:Middle Aged; D009431:Neural Conduction / Q000502:physiology*; D009896:Optic Atrophy / Q000208:ethnology / Q000235:genetics / Q000503:physiopathology*; D010264:Paraplegia / Q000208:ethnology / Q000235:genetics / Q000503:physiopathology*; D010543:Peroneal Nerve / Q000503:physiopathology; D011826:Radial Nerve / Q000503:physiopathology; D013497:Sural Nerve / Q000503:physiopathology; D013577:Syndrome; D014459:Ulnar Nerve / Q000503:physiopathology; D055815:Young Adult
keywords: SPOAN; axonal neuropathy; nerve conduction; recessive genes; spastic paraplegia