title: Peripheral neuropathy in CADASIL.
abstract: BACKGROUND
  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy associated with mutations in the Notch 3 gene. The clinical phenotype is characterized by cerebral impairment even though typical microvascular changes are diffuse.
  
  
  OBJECTIVE
  To assess peripheral neuropathy in patients with CADASIL.
  
  
  METHODS
  We enrolled eleven CADASIL patients with variable phenotype including clinical signs of peripheral nerve involvement. In all patients electromyography and nerve conduction velocities were performed. Peripheral nerve biopsy was performed in three cases.
  
  
  RESULTS
  We found sensory motor neuropathy in 7/11 patients. Nerve biopsy revealed axonal and demyelinated findings.
  
  
  CONCLUSIONS
  Our findings suggest that peripheral neuropathy may be part of the CADASIL phenotype.
authors.affiliation: Dept. of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, 53100 Siena, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Sicurelli
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.forename: Nicola
authors.initials: N
authors.lastname: De Stefano
authors.forename: Alessandro
authors.initials: A
authors.lastname: Malandrini
authors.forename: Mauro
authors.initials: M
authors.lastname: Mondelli
authors.forename: Silvia
authors.initials: S
authors.lastname: Bianchi
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
mesh_terms: D000200:Action Potentials; D000328:Adult; D000368:Aged; D001369:Axons / Q000473:pathology; D001706:Biopsy; D046589:CADASIL / Q000175:diagnosis / Q000473:pathology*; D016022:Case-Control Studies; D004576:Electromyography; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000294:innervation; D009186:Myelin Sheath / Q000473:pathology; D009412:Nerve Fibers / Q000473:pathology; D009431:Neural Conduction; D010523:Peripheral Nervous System Diseases / Q000473:pathology* / Q000503:physiopathology / Q000601:surgery; D010641:Phenotype; D011446:Prospective Studies; D013497:Sural Nerve / Q000473:pathology / Q000502:physiology / Q000601:surgery