Spine surgery and complication in familial dysautonomia: a case report [PDF]
Frontiers in SurgeryFamilial dysautonomia (FD) is an inherited severe congenital disease and a rare syndrome associated with progressive neuronal degeneration throughout life.
M. Fava +5 more
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Altered Pain Perception in a Young Adult with Childhood Trauma and Suspected Riley-Day Syndrome: A Case Report [PDF]
ReportsBackground and Clinical Significance: Altered pain perception is a diagnostic challenge for patients with a history of trauma and substance use. Familial dysautonomia (Riley-Day syndrome) may further complicate the sensory profiles. Case Presentation: We
Pedro Martínez-Lozano +7 more
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Height, weight, and body mass index in patients with familial dysautonomia. [PDF]
PLoS ONE, 2023 BackgroundChildren with familial dysautonomia (FD) are smaller and grow more slowly than the general population. It is unknown whether this abnormal growth is due to comorbidities that patients with FD live with, or if it is a direct effect of the ...
Maria L Cotrina +5 more
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AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in familial dysautonomia [PDF]
Molecular Therapy: Nucleic AcidsFamilial dysautonomia (FD) is a rare autosomal recessive neurodegenerative disorder caused by a splicing mutation in the ELP1 gene. It predominantly affects the sensory and autonomic nervous systems, with progressive vision loss due to optic neuropathy ...
Anil Chekuri +12 more
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Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models
Nature Communications, 2022 Sympathetic neurons are affected in familial dysautonomia, a rare disease associated with a mutation in ELP1, but the mechanisms are not fully understood.
Hsueh-Fu Wu +8 more
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Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia
Nature Communications, 2023 Familial dysautonomia is a rare genetic disease caused in part by neurodegeneration. Here, the authors show that the gut-metabolism axis is altered in both patients and transgenic mice and that disease pathology is ameliorated by controlling microbiome ...
Alexandra M. Cheney +16 more
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Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia
Nature Communications, 2021 Familial dysautonomia is caused by splicing mutation of IKBKAP gene, which induces skipping of exon 20 and subsequent functional loss. Here, the authors report that a synthetic splice modulator RECTAS ameliorates pathogenic exon 20 skipping and shows ...
Masahiko Ajiro +12 more
doaj +1 more source
ATP-citrate lyase promotes axonal transport across species
Nature Communications, 2021 Microtubule tracks are important for the transport of molecules within axons. Here, the authors show that ATAT1, the enzyme responsible for acetylating a-tubulin, receives acetyl groups from ATP citrate lyase whose stability is regulated by Elongator, a ...
Aviel Even +18 more
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Elp1 is required for development of visceral sensory peripheral and central circuitry
Disease Models & Mechanisms, 2022 Cardiovascular instability and a blunted respiratory drive in hypoxic conditions are hallmark features of the genetic sensory and autonomic neuropathy, familial dysautonomia (FD).
Zariah Tolman +3 more
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Characteristics of ataxic gait in familial dysautonomia patients. [PDF]
PLoS ONE, 2018 Progressive ataxic gait is a common symptom in individuals with Familial Dysautonomia (FD). At least 50% of adults with FD require assistance with walking.
Sigal Portnoy +7 more
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