Advances in the hereditary spastic paraplegias.
This review summarizes advances in understanding the genetics of the hereditary spastic paraplegias (HSPs), a diverse group of inherited disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity spastic weakness. Twenty HSP loci and nine HSP genes have been discovered. This progress has yielded new insights into the diverse molecular pathogenesis that underlies these clinically similar disorders.
Fink
John K
JK
Department of Neurology, University of Michigan and Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, Ann Arbor, MI, USA. jkfink@umich.edu
D000818:Animals; D002874:Chromosome Mapping; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D035002:Lower Extremity; D012729:Sex Chromosome Aberrations; D015419:Spastic Paraplegia, Hereditary / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D013812:Therapeutics; D016138:Walking