Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype

Lucie Guyant-Maréchal, Aad Verrips, Carole Girard, Bon A. Wevers, Folge Zijlstra, Erik Sistermans, Pierre Vera, Dominique Campion, Didier Hannequin

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Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP27). We report a 53-year-old man, with an unusual phenotype of CTX. He had xanthomas since adolescence. He had no mental retardation and developed at 44 years a progressive neuropsychiatric phenotype, suggestive of fronto-temporal dementia according to clinical Neary criteria. Cataract and ataxia were absent. Cerebral MRI revealed diffuse hyperintense T2 abnormalities in the supratentorial white matter without cerebellar atrophy or lesions, while Technetium-99m-ECD brain SPECT revealed a severe cerebellar hypoperfusion. Serum cholestanol level was elevated with excessive urinary bile alcohols excretion. Mutation analysis revealed that he was compound heterozygous for two mutations in the CYP27A1 gene: 1016 C > T (exon 5) on one allele and a novel mutation, 1435C > G (exon 8) on the other allele. A follow-up study was conducted to evaluate the effects of chenodeoxycholic acid (CDCA) and simvastatin treatment during 3 years. In spite of this treatment, cognitive functions declined but no other signs of neurological deterioration appeared.

Original languageEnglish
Pages (from-to)114-117
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume139 A
Issue number2
Publication statusPublished - 1 Dec 2005


  • CYP27A1
  • Cerebellar hypoperfusion
  • Cerebrotendinous xanthomatosis
  • Fronto-temporal dementia
  • Therapy follow-up

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