Look carefully to the heels! A potentially treatable cause of spastic paraplegia

Journal of Inherited Metabolic Disease

Volumn 38, Issue 2, 2015, Pages 363-364

  Saute, Jonas Alex ^a   Giugliani, Roberto ^a   Merkens, Louise S ^b   de Souza, Carolina Fischinger Moura ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c Pei Wen)   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26 MONOOXYGENASE; CYP27A1 PROTEIN, HUMAN;

ACHILLES TENDON; ADULT; CASE REPORT; COMPLICATION; DRUG EFFECTS; GENETIC PREDISPOSITION; GENETICS; HUMAN; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PARAPLEGIA; PATHOLOGY; PHENOTYPE; TREATMENT OUTCOME; XANTHOMATOSIS, CEREBROTENDINOUS;

ACHILLES TENDON; ADULT; CHENODEOXYCHOLIC ACID; CHOLESTANETRIOL 26-MONOOXYGENASE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; PARAPLEGIA; PHENOTYPE; TREATMENT OUTCOME; XANTHOMATOSIS, CEREBROTENDINOUS;

EID: 84939894615     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-014-9745-0     Document Type: Article

References (3)

1. Cali JJ, Hsieh CL, Francke U et al (1991) Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266:7779–7783
2. Guyant-Maréchal L, Verrips A, Girard C et al (2005) Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. Am J Med Genet A 139:114–117
3. Verrips A, Nijeholt GJ, Barkhof F et al (1999) Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. Brain 122:1589–1595