ArticleClinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology2015
Brainstem reflexes in patients with familial dysautonomia.
Article in Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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16 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations.Respiratory medicine · 2018Pooled it
- Meropenem-Induced Facial Myoclonus.Movement disorders clinical practice · 2023Article
- A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.Journal of human genetics · 2023Article
- Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia.eLife · 2022Article
- Elp1 is required for development of visceral sensory peripheral and central circuitry.Disease models & mechanisms · 2022Article
- Quantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2019Article
- ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.American journal of human genetics · 2019Article
- Prevalence and characteristics of sleep-disordered breathing in familial dysautonomia.Sleep medicine · 2018Article
- Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2018Article
- The familial dysautonomia disease geneDisease models & mechanisms · 2017Article
- Review
- Obstructive Sleep-Disordered Breathing Is More Common than Central in Mild Familial Dysautonomia.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2016Article
- Chewing-induced hypertension in afferent baroreflex failure: a sympathetic response?Experimental physiology · 2015Observational
- Norepinephrine deficiency with normal blood pressure control in congenital insensitivity to pain with anhidrosis.Annals of neurology · 2015Article
- Current treatments in familial dysautonomia.Expert opinion on pharmacotherapy · 2014Review
- Familial Dysautonomia: Mechanisms and Models.Genetics and molecular biologyArticle
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Abstract
objectiveSeveral 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.
methodsWe 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.
resultsAll 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.
conclusionsThe 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. SIGNIFICANCE: 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.
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