Article
Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.
Proceedings of the National Academy of Sciences of the United States of America - 26 Mar 2013
Beetz Christian, Johnson Adam, Schuh Amber L, Thakur Seema, Varga Rita-Eva, Fothergill Thomas, Hertel Nicole, Bomba-Warczak Ewa, Thiele Holger, Nürnberg Gudrun, Altmüller Janine, Saxena Renu, Chapman Edwin R, Dent Erik W, Nürnberg Peter, Audhya Anjon
Abstract excerpt
Hereditary spastic paraplegias are a clinically and genetically heterogeneous group of gait disorders. Their pathological hallmark is a length-dependent distal axonopathy of nerve fibers in the corticospinal tract. Involvement of other neurons can cause additional neurological symptoms, which define a diverse set of complex hereditary spastic paraplegias. We present two siblings who have the unusual combination...
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