Giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case.
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 microns 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).
Instituto de Investigaciones Neurologicas Raul Carrea, Buenos Aires, Argentina.
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Taratuto
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Sevlever
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Saccoliti
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Caceres
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Schultz
D001369:Axons / Q000648:ultrastructure*; D002648:Child; D004558:Electric Stimulation; D004594:Electrophysiology; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D009186:Myelin Sheath / Q000648:ultrastructure; D009422:Nervous System Diseases / Q000473:pathology* / Q000503:physiopathology; D012018:Reflex / Q000502:physiology; D012867:Skin / Q000473:pathology; D013194:Staining and Labeling; D013497:Sural Nerve / Q000473:pathology / Q000503:physiopathology