Genetic Evaluation of Hereditary Spastic Paraplegia
Hereditary spastic paraplegia (HSP) refers to a group of rare, clinically heterogenous degenerative neurogenetic disorders resulting in spasticity, gait impairment, and falls as the result of a length-dependent upper motor neuron degeneration. Next-generation sequencing with multigene panels or exome analysis can confirm molecular diagnosis of approximately 30% of HSP patients. Multigene panels can identify the common causative variants, variants on rarely involved genes, and structural rearrangements.
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