Аутосомно-рецессивная спастическая параплегия тип 2

Autosomal recessive spastic paraplegia type 2 (SPG2) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG2 is due to mutations in the SPG2 gene (13q13.1), which encodes the protein spartin.