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

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 was led by Professor Mary Reilly.
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.
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. UCL Institute of Neurology