HEREDITARY SPASTIC PARAPLEGIA: CLASSIFICATION, CLINICAL AND GENETIC CHARACTERISTICS

Hereditary spastic paraplegia (HSP) is clinically and genetically heterogeneous group of neurodegenerative diseases involving lesions corticospinal tract. Scientific discoveries have allowed to go beyond the classical phenotype of the disease, which includes spastic paraparesis, impaired vibration sensitivity and urination disorder. It is now known that the disease may be accompanied by the development of cerebellar ataxia, cognitive impairment, visual disturbances and other neurological and non-neurological symptoms. Such clinical manifestations form an extensive group of "complex" ("combined") HSP. There are 82 genetic subtypes of the disease that can have autosomal dominant, autosomal recessive, and X-linked inheritance types. The article reviews the genetic basis and clinical manifestations of various subtypes of HSP, discusses differential diagnosis and modern treatment options.