title: Familial spastic paraparesis: a case of a mitochondrial disorder.
abstract: Familial spastic paraparesis is characterized by progressive gait disturbance without associated sensory, cerebellar, or cranial nerve deficits. Mitochondrial disorders are associated with heterogenic clinical presentations, though not with spastic paraparesis. A patient with familial spastic paraparesis had deficiencies of respiratory chain enzyme complex I, III, and IV. Progressive spasticity was arrested after treatment with coenzyme Q, carnitine, vitamin C and K. Familial spastic paraparesis may represent a mitochondrial disorder.
authors.affiliation: Department of Pediatrics, Loyola University Medical Center, Maywood, Ill.
authors.forename: R S
authors.initials: RS
authors.lastname: Beltran
authors.forename: S B
authors.initials: SB
authors.lastname: Coker
mesh_terms: D001706:Biopsy; D002648:Child; D030401:Cytochrome-c Oxidase Deficiency; D003576:Electron Transport Complex IV / Q000235:genetics; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000648:ultrastructure*; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009460:Neurologic Examination; D015419:Spastic Paraplegia, Hereditary / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*
chemical_list: D003576:Electron Transport Complex IV