The hereditary spastic paraplegias: nine genes and counting.
The hereditary spastic paraplegias (HSPs) are inherited neurologic disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity weakness and spasticity. There have been great strides in our knowledge of this group of disabling disorders; 20 HSP loci and 9 HSP genes have been discovered. Insights into the molecular causes of HSPs are beginning to emerge. This review summarizes these advances in HSPs' genetics.
Fink
John K
JK
Department of Neurology, University of Michigan, 5214 Cancer Geriatrics Center Bldg., Box 0940, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USA. jkfink@umich.edu
D000818:Animals; D005838:Genotype; D006801:Humans; D009154:Mutation; D010641:Phenotype; D015419:Spastic Paraplegia, Hereditary / Q000145:classification* / Q000235:genetics*