title: Brainstem reflexes in patients with familial dysautonomia.
abstract: OBJECTIVE
  Several distinctive clinical features of patients with familial dysautonomia (FD) including dysarthria and dysphagia suggest a developmental defect in brainstem reflexes. Our aim was to characterize the neurophysiological profile of brainstem reflexes in these patients.
  
  
  METHODS
  We studied the function of sensory and motor trigeminal tracts in 28 patients with FD. All were homozygous for the common mutation in the IKAP gene. Each underwent a battery of electrophysiological tests including; blink reflexes, jaw jerk reflex, masseter silent periods and direct stimulation of the facial nerve. Responses were compared with 25 age-matched healthy controls.
  
  
  RESULTS
  All patients had significantly prolonged latencies and decreased amplitudes of all examined brainstem reflexes. Similar abnormalities were seen in the early and late components. In contrast, direct stimulation of the facial nerve revealed relative preservation of motor responses.
  
  
  CONCLUSIONS
  The brainstem reflex abnormalities in FD are best explained by impairment of the afferent and central pathways. A reduction in the number and/or excitability of trigeminal sensory axons is likely the main problem.
  
  
  CONCLUSIONS
  These findings add further evidence to the concept that congenital mutations of the elongator-1 protein (or IKAP) affect the development of afferent neurons including those carrying information for the brainstem reflex pathways.
authors.affiliation: Department of Clinical Neurophysiology, Cuban Institute of Neurology and Neurosurgery, La Habana, Cuba.
authors.forename: Joel V
authors.initials: JV
authors.lastname: Gutiérrez
authors.affiliation: Department of Physiology and Neuroscience, New York University School of Medicine, New York, NY, USA.
authors.forename: Lucy
authors.initials: L
authors.lastname: Norcliffe-Kaufmann
authors.affiliation: Department of Neurology, New York University School of Medicine, New York, NY, USA. Electronic address: Horacio.Kaufmann@nyumc.org.
authors.forename: Horacio
authors.initials: H
authors.lastname: Kaufmann
mesh_terms: D000293:Adolescent; D000328:Adult; D001933:Brain Stem / Q000503:physiopathology*; D004402:Dysautonomia, Familial / Q000503:physiopathology*; D004558:Electric Stimulation; D004576:Electromyography; D005154:Facial Nerve / Q000503:physiopathology; D005260:Female; D006801:Humans; D008297:Male; D008406:Masseter Muscle / Q000503:physiopathology; D009475:Neurons, Afferent / Q000502:physiology*; D012018:Reflex / Q000502:physiology*; D055815:Young Adult
keywords: Afferent disorder; Blink reflex; Familial dysautonomia; Hereditary sensory and autonomic neuropathy type III; Hereditary sensory neuropathy; Jaw jerk reflex
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