Molecular aspects of hereditary spastic paraplegia.

摘要: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive lower limbs spasticity weakness. What was first thought to be small rare Mendelian disorder has now become large that includes many complex syndromes. While families with defined modes inheritance were used for the initial HSP gene discovery, new sequencing technologies have recently allowed study families, identification disease causative genes. These discoveries are slowly leading better understanding molecular mechanisms underlying precise pathways. insights may lead therapeutic strategies what largely untreatable diseases. This review looks at key players involved in where they act their specific