Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder, due to mutations of the CYP27A1 gene, leading to cholestanol accumulation because of the sterol- 27-hydroxylase enzyme deficiency. Treatment with chenodeoxycholic acid (CDCA) normalizes cholestanol and improves neurophysiological findings. Several mutations of the CYP27A1 gene are described in different ethnic groups, without genotype–phenotype correlations. We describe two unrelated Sardinian families sharing the same CYP27A1 mutation.

Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia

MANDRILE, Giorgia;GIACHINO, Daniela Francesca;
2014

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder, due to mutations of the CYP27A1 gene, leading to cholestanol accumulation because of the sterol- 27-hydroxylase enzyme deficiency. Treatment with chenodeoxycholic acid (CDCA) normalizes cholestanol and improves neurophysiological findings. Several mutations of the CYP27A1 gene are described in different ethnic groups, without genotype–phenotype correlations. We describe two unrelated Sardinian families sharing the same CYP27A1 mutation.
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http://link.springer.com/article/10.1007%2Fs10072-014-1696-6
Cerebrotendinous xanthomatosis; Sardinia
Giorgia Mandrile;Gian Nicola Gallus;Giuseppe Mura;Alessia Sapio;Maria Alessandra Sotgiu;Andrea Montella;Daniela Francesca Giachino;Maria Teresa Dotti;Lucia Ulgheri;Antonio Federico
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2318/148508
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