Hereditary Spastic Paraplegia Exome

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders, characterized by progressive spasticity and weakness of the lower extremities due to pyramidal tract dysfunction. HSP can be associated with brisk reflexes, extensor plantar reflexes, and urinary urgency. Clinically, HSP can be classified as “complicated” or “complex” if the patient presents with other neurological and systemic features in addition to HSP, such as ataxia, dystonia, intellectual disability, dementia, optic atrophy, retinitis pigmentosa, epilepsy, muscular atrophy, deafness, ichthyosis, and short stature. HSP can be classified as pure or uncomplicated if no additional findings are present. Age of onset of HSP can range from early childhood to late adulthood. In early onset cases spasticity is typically more prominent than muscle weakness, and motor delays may be observed. For later onset cases, muscle weakness may be more marked, and symptoms may progress more rapidly compared to early onset cases.  A significant proportion of HSP cases are inherited in an autosomal dominant manner, however autosomal recessive, X-linked and mitochondrial inheritance patterns have been reported. The hereditary spastic paraplegia exome involves analysis of exome sequencing data in a predefined set of genes associated with spastic paraplegia and spastic paraplegia -related disorders. Age of onset of symptoms for the included genes ranges from infancy to adulthood.