Aug 2010

A new study from Tom Gillingwater, Simon Parson and colleagues suggests that it may be important to monitor brain development and function in patients with the severest forms of the childhood motor neurone disease, spinal muscular atrophy (SMA). The study, recently published in Human Molecular Genetics, is the first to report brain development defects in mouse models of severe SMA. This finding is important because scientists and clinicians previously believed that SMA only affected peripheral nerves and their targeted muscles. The team are now investigating why the brain seems only to be targeted in the severest forms of the disease, as patients with milder forms of the disease are known to have normal, or above average, intelligence and cognitive function. 

Full paper details: Wishart TM, Huang JP, Murray LM, Lamont DJ, Mutsaers CA, Ross J, Geldsetzer P, Ansorge O, Talbot K, Parson SH, Gillingwater TH. SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy. Hum Mol Genet. 2010 Aug 12 [Epub ahead of print]