caa a22 4500 46576777X CHVBK 20180323111919.0 cr unu---uuuuu 170327e19901001xx s 000 0 eng 10.1007/BF00307639 doi (NATIONALLICENCE)springer-10.1007/BF00307639 Giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case [Elektronische Daten] [A. Taratuto, G. Sevlever, M. Saccoliti, L. Caceres, M. Schultz] Summary: Giant axonal neuropathy (GAN), a progressive childhood disorder of intermediate filaments (IF), is characterized by a peripheral neuropathy and central nervous system involvement. Twenty-eight cases have been reported while several pathogenic hypotheses have been proposed. Sural nerve biopsy of a 10-year-old Argentinian girl showed a reduced number of myelinated fibers as well as several enlarged axons up to 30 μm in diameter, thinly myelinated or devoid of myelin sheath, displaying accumulation of neurofilaments (NF), but few microtubules (MT) beneath the axolemmal membrane. There was IF accumulation in Schwann and perineural cells as well as in melanocytes, fibroblasts, pericytes, endothelial and epithelial cells in both nerve and skin biopsy. Our findings strongly support GAN as a generalized IF disorder with MT segregation from NF in giant axons. Abnormal NF phosphorylation is suggested by heavy immunostaining of enlarged axons by a monoclonal antibody to NF phosphorylated determinants (SMI 31-Sternberger's) and lack of reaction with a monoclonal antibody with different phosphoepitopes affinity (SMI 34-Sternberger's). Springer-Verlag, 1990 Giant axonal neuropathy nationallicence Intermediate filaments nationallicence Neurofilaments nationallicence Taratuto A. Instituto de Investigaciones Neurologicas "Raul Carrea”, Ayacucho 2166, (1112), Buenos Aires, Argentina aut Sevlever G. Instituto de Investigaciones Neurologicas "Raul Carrea”, Ayacucho 2166, (1112), Buenos Aires, Argentina aut Saccoliti M. Instituto de Investigaciones Neurologicas "Raul Carrea”, Ayacucho 2166, (1112), Buenos Aires, Argentina aut Caceres L. Instituto de Investigaciones Neurologicas "Raul Carrea”, Ayacucho 2166, (1112), Buenos Aires, Argentina aut Schultz M. Instituto de Investigaciones Neurologicas "Raul Carrea”, Ayacucho 2166, (1112), Buenos Aires, Argentina aut Acta Neuropathologica Springer-Verlag 80/6(1990-10-01), 680-683 0001-6322 80:6<680 1990 80 401 https://doi.org/10.1007/BF00307639 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00307639 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Taratuto A. Instituto de Investigaciones Neurologicas "Raul Carrea”, Ayacucho 2166, (1112), Buenos Aires, Argentina aut NATIONALLICENCE 700 1- Sevlever G. Instituto de Investigaciones Neurologicas "Raul Carrea”, Ayacucho 2166, (1112), Buenos Aires, Argentina aut NATIONALLICENCE 700 1- Saccoliti M. Instituto de Investigaciones Neurologicas "Raul Carrea”, Ayacucho 2166, (1112), Buenos Aires, Argentina aut NATIONALLICENCE 700 1- Caceres L. Instituto de Investigaciones Neurologicas "Raul Carrea”, Ayacucho 2166, (1112), Buenos Aires, Argentina aut NATIONALLICENCE 700 1- Schultz M. Instituto de Investigaciones Neurologicas "Raul Carrea”, Ayacucho 2166, (1112), Buenos Aires, Argentina aut NATIONALLICENCE 773 0- Acta Neuropathologica Springer-Verlag 80/6(1990-10-01), 680-683 0001-6322 80:6<680 1990 80 401 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer