Amyotrophic Lateral Sclerosis
Research findings from E. Kabashi et al update understanding of amyotrophic lateral sclerosis
Published in Pain and Central Nervous System Week, February 1st, 2010
A report, 'Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo,' is newly published data in Human Molecular Genetics. "TDP-43 has been found in inclusion bodies of multiple neurological disorders, including amyotrophic lateral sclerosis, frontotemporal dementia, Parkinson's disease and Alzheimer's disease. Mutations in the TDP-43 encoding gene, TARDBP, have been subsequently reported in sporadic and familial ALS patients," scientists in Quebec, Canada report.
"In order to investigate the pathogenic nature of these mutants, the effects of three consistently reported TARDBP mutations (A315T, G348C and A382T) were...
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