title: An adult male with progressive spastic paraparesis and gait instability.
abstract: This is a case of an adult male with history of motor difficulties, speech, and behavioral problems since early childhood found to have progressive spastic paraparesis, impaired vibration and proprioception, and gait instability. His medical history included bilateral cataracts status post surgical removal at the age of 30, cholelithiasis status post cholecystectomy at age 45, and high cholesterol levels.
authors.affiliation: Wesley Neurology Clinic, Memphis, TN.
authors.forename: Helen
authors.initials: H
authors.lastname: Ly
authors.forename: Tulio E
authors.initials: TE
authors.lastname: Bertorini
authors.forename: Namrata
authors.initials: N
authors.lastname: Shah
mesh_terms: D000328:Adult; D017668:Age of Onset; D002386:Cataract / Q000235:genetics*; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics; D020233:Gait Disorders, Neurologic / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020336:Paraparesis, Spastic / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications* / Q000175:diagnosis*
chemical_list: C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase