New gene identified for Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraparesis

16 May 2013

Researchers at the UCL Institute of Neurology together with international collaborators have identified a new gene, BICD2, which causes both dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraparesis.

The team led by Professor Mary Reilly have published their findings in the current edition of the American Journal of Human Genetics.

Dominant Congenital Spinal Muscular Atrophy is a disorder of developing anterior horn cells and is characterised by lower limb predominance whereas Hereditary Spastic Paraparesis develops in childhood or adult life and is also a lower limb predominant disorder but of the corticospinal motor neurons.

The importance of this gene for motor nerves is underlined by the simultaneous publication of the same gene causing dominant Congenital Spinal Muscular Atrophy by two other groups in the same issue of the American Journal of Human Genetics.

The identification of the gene by exome sequencing and the subsequent functional work to study the pathogenesis of the disorder formed a major part of the PhD of Dr. Alex Rossor, a PhD student in the MRC Centre for Neuromuscular Diseases in the Institute of Neurology.

Read more:

Emily C. Oates, Alexander M Rossor et al. Mutations in BICD2 cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia. The American Journal of Human Genetics. Available online 9 May 2013. http://dx.doi.org/10.1016/j.ajhg.2013.04.018