Neurogenic dysphagia with undigested macaroni and megaesophagus in familial dysautonomia
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Structural and functional abnormalities in familial dysautonomia include reduced neuronal density in the myenteric plexus and severe esophageal dysmotility with dilatation and fluid stasis in some patients.
“Structural and functional abnormalities include reduced neuronal density in the myenteric plexus (Bar-Shai et al., 2004) and severe esophageal dysmotility with dilatation and fluid stasis in some patients (Palma et al., 2018).”
From Autonomic nervous system and gastrointestinal manifestations with an emphasis on gastric dysfunction (2026) · cites this paper as Palma et al., 2018
Cites
Familial dysautonomia: History, genotype, phenotype and translational research
Norcliffe‐Kaufmann, L., Slaugenhaupt, S. A., & Kaufmann, H. (2016) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2016.06.003 · Cited by 103 · see citing works
Self-citationScintigraphic evaluation of esophageal transit and gastric emptying in familial dysautonomia
Krausz, Y., Maayan, C., Faber, J., Marciano, R., Mogle, P., & Wynchank, S. (1994) · European Journal of Radiology · doi:10.1016/0720-048x(94)90367-0 · Cited by 35 · see citing works
Neonatal recognition of familial dysautonomia
Axelrod, F. B., Porges, R. F., & Sein, M. E. (1987) · The Journal of Pediatrics · doi:10.1016/s0022-3476(87)80420-1 · Cited by 35 · see citing works
Brainstem reflexes in patients with familial dysautonomia
Gutiérrez, J., Norcliffe‐Kaufmann, L., & Kaufmann, H. (2014) · Clinical Neurophysiology · doi:10.1016/j.clinph.2014.06.028 · Cited by 29 · see citing works
Self-citationMegaesophagus and recurrent apnea in an adult patient with familial dysautonomia.
Maayan, C., Oren, A., Goldin, E., Dinour, D., Goldberg, M., & Mogle, P. (1990) · PubMed · Cited by 26 · see citing works
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Gastrointestinal motility disorders in neurologic disease
Camilleri, M. (2021) · Journal of Clinical Investigation · doi:10.1172/jci143771 · Cited by 211 · see citing works
Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations
Kazachkov, M. Y., Palma, J., Norcliffe‐Kaufmann, L., Bar-Aluma, B.-E., Spalink, C. L., Barnes, E. P., Amoroso, N. E., Balou, M., Bess, S. R., Chopra, A., et al. (2018) · Respiratory Medicine · doi:10.1016/j.rmed.2018.06.017 · Cited by 21 · see citing works
Self-citationLoss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia
Leonard, C. E., Quiros, J., Lefcort, F. B., & Taneyhill, L. A. (2022) · eLife · doi:10.7554/elife.71455 · Cited by 16 · see citing works
Palma, J., Gileles‐Hillel, A., Norcliffe‐Kaufmann, L., & Kaufmann, H. (2019) · Autonomic Neuroscience · doi:10.1016/j.autneu.2019.02.003 · Cited by 14 · see citing works
Self-citationFrequency and burden of gastrointestinal symptoms in familial dysautonomia
Ramprasad, C., Norcliffe‐Kaufmann, L., Palma, J., Levy, J., Zhang, Y., Spalink, C. L., Khan, A., Smukalla, S. M., Kaufmann, H., & Chen, L. A. (2020) · Clinical Autonomic Research · doi:10.1007/s10286-020-00735-9 · Cited by 10 · see citing works
Self-citationResting Energy Expenditure in Patients With Familial Dysautonomia
Aluma, B. E. B., Kaufmann, H., Sarouk, I., Dagan, A., Ashkenazi, M., Bezalel, Y., Vilozni, D., Lahad, A., & Efrati, O. (2018) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0000000000002180 · Cited by 5 · see citing works
Self-citationQuantitative magnetic resonance evaluation of the trigeminal nerve in familial dysautonomia
Won, E., Palma, J., Kaufmann, H., Milla, S. S., Cohen, B., Norcliffe‐Kaufmann, L., Babb, J. S., & Lui, Y. W. (2019) · Clinical Autonomic Research · doi:10.1007/s10286-019-00593-0 · Cited by 4 · see citing works
Self-citationHeight, weight, and body mass index in patients with familial dysautonomia
Cotrina, M. L., Morgenstein, B., Perez, M. A., Norcliffe‐Kaufmann, L., Palma, J., & Kaufmann, H. (2023) · PLoS ONE · doi:10.1371/journal.pone.0293800 · Cited by 2 · see citing works
Self-citationPathologic fracture of mandibular ramus in a patient with familial dysautonomia: A case report
Nolan, P. J., Koslovsky, D. A., & Roberts, D. (2024) · Oral and Maxillofacial Surgery Cases · doi:10.1016/j.omsc.2024.100352 · Cited by 1 · see citing works
Autonomic nervous system and gastrointestinal manifestations with an emphasis on gastric dysfunction
Shouman, K., Camilleri, M., & Singer, W. (2026) · Autonomic Neuroscience · doi:10.1016/j.autneu.2026.103474
The Clinical Autonomic Research journal 2018 and onward
Kaufmann, H., & Jordan, J. (2018) · Clinical Autonomic Research · doi:10.1007/s10286-018-0505-3
Self-citationPalma, J., & Kaufmann, H. (2021) · Springer eBooks · doi:10.1007/978-3-030-62263-3_26
Self-citationLeonard, C. E., Tang, L. C., Ueberheide, B. M., & Taneyhill, L. A. (2026) · Developmental Dynamics · doi:10.1002/dvdy.70145
- Authors
- Palma, J.-A., Spalink, C., Barnes, E. P., Norcliffe-Kaufmann, L., & Kaufmann, H.
- Affiliations
- New York University (US)
- NYU Langone Health (US)
- Corresponding author
- Kaufmann, Horacio
- Venue
- Clinical Autonomic Research
- Published
- 2017-12-01
- Volume
- 28
- Issue
- 1
- Pages
- 125-126
- ISSN
- 0959-9851 (ISSN-L)
- 1619-1560
- PMC
- PMC5807189
- OpenAlex
- W2774144448
- Cited by
- 13
- References
- 5
- Citations by year
- 2026: 2 · 2024: 1 · 2023: 1 · 2022: 1 · 2021: 2 · 2020: 1 · 2019: 2 · 2018: 3
- FWCI
- 3.23
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Clinical Autonomic Research (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Dysautonomia Foundation
- National Institute of Neurological Disorders and Stroke (U54-NS065736-01)
- Topics
- Health Sciences › Health Professions › Speech and Hearing › Dysphagia Assessment and Management
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
- Keywords
- neurogenic dysphagia, megaesophagus, familial dysautonomia, autonomic dysfunction, esophageal motility
- MeSH terms
- Deglutition Disorders, Dysautonomia, Familial, Esophageal Achalasia, Humans, Male, Middle Aged
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