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Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1.
Hum Mol Genet
October 2024
The Jackson Laboratory, 600 Main St., Bar Harbor, ME 04609 United States.
Spinal Muscular Atrophy with Respiratory Distress (SMARD1) is a lethal infantile disease, characterized by the loss of motor neurons leading to muscular atrophy, diaphragmatic paralysis, and weakness in the trunk and limbs. Mutations in IGHMBP2, a ubiquitously expressed DNA/RNA helicase, have been shown to cause a wide spectrum of motor neuron disease. Though mutations in IGHMBP2 are mostly associated with SMARD1, milder alleles cause the axonal neuropathy, Charcot-Marie-Tooth disease type 2S (CMT2S), and some null alleles are potentially a risk factor for sudden infant death syndrome (SIDS).
View Article and Find Full Text PDFAdoptive transfer-experimental allergic neuritis in newborn Lewis rats results in inflammatory infiltrates, mast cell activation, and increased Ia expression with only minor nerve fiber degeneration.
Acta Neuropathol
November 2002
Institut für Neuropathologie, Universitätsklinikum der Rheinisch-Westfälischen Technischen Hochschule Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany.
Experimental allergic neuritis (EAN) induced in the Lewis rat by the adoptive transfer of a P2-specific T cell line (AT-EAN) is considered an animal model of Guillain-Barré syndrome. It is not yet known whether AT-EAN is inducible at early stages in the development of the peripheral nervous system (PNS) or whether disease activity is modified because of immaturity of either the nervous system or the immune system. We therefore compared the susceptibility of neo-natal and adult Lewis rats to AT-EAN induced by the adoptive transfer (intraperitoneally) of 10(6) activated P2-specific T cells.
View Article and Find Full Text PDF[Treatment of spinal deformities in patients with cerebral palsy].
Rev Chir Orthop Reparatrice Appar Mot
May 1989
Service de Chirurgie Orthopédique, Hôpital St-Vincent-de-Paul, Paris.
Fifty-five patients with cerebral palsy and spinal deformities were operated on between 1972-1985. 10 had mental retardation related to other etiology than neo-natal encephalopathy where this was found in the remaining 45 patients. 43 curves were paralytic type; 12 were idiopathic type.
View Article and Find Full Text PDFThe plasticity of cervical primary afferents has been investigated in young adult cats in which the trigeminal root, together with most of the ganglion, had been excised via a new approach to these structures during the first week after birth. Once degeneration debris had disappeared, bilateral ganglionectomies of the upper three cervical dorsal roots were done in five animals and the IXth and Xth roots transected on the side of the chronic trigeminal denervation in one instance; the degeneration pattern on the chronically denervated side was compared to that on the normal side. There was mild evidence of increased degeneration of the cervical afferents in the C1 segment and in the medulla (subnucleus interpolaris of V) on the chronically denervated side.
View Article and Find Full Text PDF[Neonatal spinal cord injury and primary cephalic deflections].
J Gynecol Obstet Biol Reprod (Paris)
March 1974
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