Disease relevance of Dysautonomia, Familial

• Hypersensitivity to N-methyl-N'-nitro-N-nitrosoguanidine in fibroblasts from patients with Huntington disease, familial dysautonomia, and other primary neuronal degenerations [1].
• Skin fibroblasts from patients with familial dysautonomia, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease show normal sensitivity to ionising radiation, as measured by post-irradiation clonal growth [2].
• OBJECTIVE: To assess experience with growth hormone (GH) therapy in patients with familial dysautonomia (FD).Study design Of 580 patients with FD registered at the Dysautonomia Center at New York University Medical Center, 13 patients (8 males, 5 females) aged 1.10 to 15.10 years received GH treatment [3].
• We judge midodrine to be useful in management of orthostatic hypotension in patients with familial dysautonomia [4].
• The diagnosis of familial dysautonomia (FD) was confirmed by a missing axonal flare to histamine, miosis in response to conjunctival methacholine and homozygous polymorphic linked markers DS58(18) and DS159(7) on chromosome 9 [5].

High impact information on Dysautonomia, Familial

• Neuropeptides were first localized in the human spinal cord by immunocytochemistry and substance P has been shown, by the same method, to be reduced ipsilaterally in the dorsal horn after limb amputation and bilaterally in the Riley-Day syndrome [6].
• Tyrosine hydroxylase immunoreactivity in familial dysautonomia [7].
• Mutations in human Elp1p (IKAP) are a known cause of familial dysautonomia (FD) [8].
• We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy [9].
• Twelve of the 13 patient strains, including the 6 Huntington disease and the 4 familial dysautonomia strains, were abnormally sensitive [1].

Chemical compound and disease context of Dysautonomia, Familial

• Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia [10].
• Midodrine, a peripheral alpha-adrenergic agonist, was evaluated in 7 female and 2 male patients with familial dysautonomia (FD), a disorder characterized by decreased sympathetic innervation [4].
• Fentanyl anesthesia in familial dysautonomia [11].
• Serum dopamine-beta-hydroxylase in familial dysautonomia [12].
• The final mean changes of flow after phentolamine pretreatment were not different between the two groups and were comparable to the familial dysautonomia group's smaller response after saline pretreatment [13].

Biological context of Dysautonomia, Familial

• The defective gene DYS, which is responsible for familial dysautonomia (FD) and has been mapped to a 0.5-cM region on chromosome 9q31, has eluded identification [14].
• Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene [15].

Anatomical context of Dysautonomia, Familial

• Nerve growth factor was measured in cultured human skin fibroblasts from controls and from patients with familial dysautonomia and dystonia musculoram deformans [16].
• Additionally, our results point to a role of JNK signaling in familial dysautonomia and, thus, further support the involvement of JNK signaling in the development, survival, and degeneration of the sensory and autonomic nervous system [17].
• Some symptoms resemble familial dysautonomia (FD, Riley-Day syndrome), however, hallmarks of FD, such as absence of fungiform papillae of the tongue, abnormal reaction on intradermal histamine injection, absent tendon reflexes, are missing, and central motor disturbances have not been described in FD [18].
• The Riley-Day syndrome is characterized by a dysfunction of the autonomous nervous system, sensory disturbances, neurological disorders, psychical anomalies and important ophthalmological symptoms, such as absence of tears, corneal anaesthesia, keratinized conjunctiva and cornea; myosis after instillation of methacholine [19].

Gene context of Dysautonomia, Familial

• Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia [20].
• Therefore, the NTRK2 gene can now be excluded as a candidate gene for familial dysautonomia [21].
• Two novel human actin-like genes, ACTL7A and ACTL7B, were identified by cDNA selection and direct genomic sequencing from the familial dysautonomia candidate region on 9q31 [22].
• Here, we assess CG-2 as a candidate for familial dysautonomia [23].
• The autosomal recessive disorder familial dysautonomia (FD) has recently been demonstrated to be caused by mutations in the IKBKAP gene, so named because an initial report suggested that it encoded an IkappaB kinase complex associated protein (IKAP) [24].

Analytical, diagnostic and therapeutic context of Dysautonomia, Familial

• The familial dysautonomia subject group had higher mean baseline perfusion with widely fluctuating baselines, especially on the phentolamine pretreated side (P = 0.03) [13].

References