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
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
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.
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