Familial spastic paraparesis: a case of a mitochondrial disorder.
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.
Beltran
R S
RS
Department of Pediatrics, Loyola University Medical Center, Maywood, Ill.
Coker
S B
SB
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*
D003576:Electron Transport Complex IV