Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.

摘要: Hereditary spastic paraplegia (HSP) is a group of disorders whose primary symptom insidiously progressive, lower extremity spasticity and weakness. Neuropathological analysis "pure" HSP reveals axonal degeneration that maximal in the terminal portions longest descending ascending tracts (crossed uncrossed corticospinal to legs fasciculus gracilis, respectively). may be transmitted as an X-linked, autosomal recessive, or dominant trait, each which genetically heterogeneous: mutations different genes cause clinically similar disorders. To date, there are at least three genetic loci for X-linked HSP; recessive six HSP. The basis these twelve forms have been discovered. One form (on chromosome 16) due paraplegin gene, encodes mitochondrial protein homologous metalloproteases. caused by proteolipoprotein intrinsic myelin protein. Mutation this gene also causes dysmyelinating disorder, Pelizeaus-Merzbacher disease. can L1CAM gene. This review summarizes our current understanding heterogeneity genotype-phenotype correlation