Genetics of hereditary spastic paraplegia

Published on August 5, 2014   34 min

Other Talks in the Series: The Genetic Basis of Neurological Disorders

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My name is Arianna Tucci. I am a Clinical Research Fellow at UCL Institute for Neurology, and I work on the genetics basis of neurodegenerative diseases. Today I'm going to talk about the genetics of hereditary spastic paraplegia.
Hereditary spastic paraplegia, or HSP, refers to a clinical designation for neurological syndromes characterized by bilateral lower limb spasticity, or stiffness and weakness, which are caused by gene mutation and therefore they are inherited. HSP was first described by Strumpell in 1880 as an upper motor neuron syndrome.
Upper motor neurons are part of the pyramidal motor system, which controls human voluntary movements. This system is arranged into two main stages. First, axons of the upper motor neurons originating in the cerebromotor cortex call through the brain stem and descend as the lateral corticospinal tract within the spinal cord. In the spinal cord the upper motor neuron axons establish synapses directly with lower motor neurons. Or with a spinal interneuron, which in turn established a connection with lower motor neurons. In the second stage lower motor neurons terminate in specialized synapses at the neuromuscular junction throughout the body to regulate muscle contraction. So for example at the cervical level, the upper motor neurons establish synapses with lower motor neurons that control muscles of the arms. While down at the lumbar level upper motor neurons control neurons that in turn control the muscles of the legs. On the right side of the slide is an illustration of the spinal cord in a transverse section, showing the lateral corticospinal tracts. The corticospinal tracts are made up by the axons of the upper motor neurons originating from the cerebral cortex.