Cerebrotendinous xanthomatosis (CTX) is a treatable, autosomal recessive, lipid storage disorder characterized by diarrhea and cataracts, usually appearing in the first decade of life, followed by growth of tendon xanthomas and progressive neurologic disability.1 The typical brain findings include MRI signal abnormalities mainly in the globus pallidus and dentate nuclei.2 The disease is caused by deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in impaired primary bile acid synthesis, decreased chenodeoxycholic acid production, and cholestanol accumulation in virtually every tissue.3 The main blood chemistry abnormalities include high plasma levels of cholestanol with normal to low cholesterol. Different mutations of the CYP27A1 gene have been described.4 Early diagnosis is crucial as treatment with chenodeoxycholic acid (CDCA) may improve symptoms.5 Here we report the cases of two Argentinian siblings with a novel mutation of the CYP27A1 gene associated with clinical variants, including absence of tendon xanthomas.

Szlago, M., Gallus, G.N., Schenone, A., Patinõ, M.e., Sfaelo, Z., Rufa, A., et al. (2008). The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. NEUROLOGY, 70(5), 402-404 [10.1212/01.wnl.0000280460.28039.3d].

The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene.

GALLUS, GIAN NICOLA;RUFA, ALESSANDRA;DOTTI, MARIA;FEDERICO, ANTONIO
2008-01-01

Abstract

Cerebrotendinous xanthomatosis (CTX) is a treatable, autosomal recessive, lipid storage disorder characterized by diarrhea and cataracts, usually appearing in the first decade of life, followed by growth of tendon xanthomas and progressive neurologic disability.1 The typical brain findings include MRI signal abnormalities mainly in the globus pallidus and dentate nuclei.2 The disease is caused by deficiency of the mitochondrial enzyme, sterol 27-hydroxylase, resulting in impaired primary bile acid synthesis, decreased chenodeoxycholic acid production, and cholestanol accumulation in virtually every tissue.3 The main blood chemistry abnormalities include high plasma levels of cholestanol with normal to low cholesterol. Different mutations of the CYP27A1 gene have been described.4 Early diagnosis is crucial as treatment with chenodeoxycholic acid (CDCA) may improve symptoms.5 Here we report the cases of two Argentinian siblings with a novel mutation of the CYP27A1 gene associated with clinical variants, including absence of tendon xanthomas.
2008
Szlago, M., Gallus, G.N., Schenone, A., Patinõ, M.e., Sfaelo, Z., Rufa, A., et al. (2008). The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. NEUROLOGY, 70(5), 402-404 [10.1212/01.wnl.0000280460.28039.3d].
File in questo prodotto:
File Dimensione Formato  
Szlago 2008.pdf

non disponibili

Tipologia: Post-print
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 232.98 kB
Formato Adobe PDF
232.98 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/25788
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo