Norepinephrine transporter defects lead to sympathetic hyperactivity in Familial Dysautonomia models [PDF]
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
doaj +5 more sources
Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators [PDF]
Scientific Reports, 2023 Familial dysautonomia (FD) is a rare neurodevelopmental and neurodegenerative disease caused by a splicing mutation in the Elongator Acetyltransferase Complex Subunit 1 (ELP1) gene.
Anastasia Schultz +14 more
doaj +5 more sources
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
doaj +5 more sources
The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms [PDF]
Human Genome Variation, 2021 We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered ...
Yuki Kawashima-Sonoyama +5 more
doaj +6 more sources
Combinatorial treatment increases IKAP levels in human cells generated from Familial Dysautonomia patients. [PDF]
PLoS ONE, 2019 Familial Dysautonomia (FD) is an autosomal recessive congenital neuropathy that results from a point mutation at the 5' splice site of intron 20 in the IKBKAP gene.
Sivan Yannai +3 more
doaj +5 more sources
Gut microbiome dysbiosis drives metabolic dysfunction in Familial dysautonomia [PDF]
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
doaj +3 more sources
Author Correction: Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia [PDF]
Nature Communications, 2021 Masahiko Ajiro +12 more
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Loss of Elp1 disrupts trigeminal ganglion neurodevelopment in a model of familial dysautonomia [PDF]
eLife, 2022 Familial dysautonomia (FD) is a sensory and autonomic neuropathy caused by mutations in elongator complex protein 1 (ELP1). FD patients have small trigeminal nerves and impaired facial pain and temperature perception.
Carrie E Leonard +3 more
doaj +3 more sources
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
doaj +4 more sources
Familial Dysautonomia: Mechanisms and Models [PDF]
Genetics and Molecular Biology, 2016 Hereditary Sensory and Autonomic Neuropathies (HSANs) compose a heterogeneous group of genetic disorders characterized by sensory and autonomic dysfunctions.
Paula Dietrich, Ioannis Dragatsis
doaj +4 more sources