Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to accumulating neurologic deficits and dementia. CADASIL has been linked to nucleotide substitutions and deletions in the Notch3 gene. All the mutations described until now lead to impaired cysteine residue in the epidermal growth factor-like repeats. The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL / MAZZEI R; CONFORTI FL; LANZA PL; SPROVIERI T; LUPO MR; GALLO O; PATITUCCI A; MAGARIELLO A; CARACCIOLO M; GABRIELE AL; FERA F; VALENTINO P; BONO F; CENACCHI G.; SANTORO G; MUGLIA M; QUATTRONE A.. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 63:3(2004), pp. 561-564. [10.1212/01.WNL.0000133399.37716.84]

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL

CENACCHI, GIOVANNA;
2004

Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to accumulating neurologic deficits and dementia. CADASIL has been linked to nucleotide substitutions and deletions in the Notch3 gene. All the mutations described until now lead to impaired cysteine residue in the epidermal growth factor-like repeats. The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue
2004
A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL / MAZZEI R; CONFORTI FL; LANZA PL; SPROVIERI T; LUPO MR; GALLO O; PATITUCCI A; MAGARIELLO A; CARACCIOLO M; GABRIELE AL; FERA F; VALENTINO P; BONO F; CENACCHI G.; SANTORO G; MUGLIA M; QUATTRONE A.. - In: NEUROLOGY. - ISSN 0028-3878. - STAMPA. - 63:3(2004), pp. 561-564. [10.1212/01.WNL.0000133399.37716.84]
MAZZEI R; CONFORTI FL; LANZA PL; SPROVIERI T; LUPO MR; GALLO O; PATITUCCI A; MAGARIELLO A; CARACCIOLO M; GABRIELE AL; FERA F; VALENTINO P; BONO F; CENACCHI G.; SANTORO G; MUGLIA M; QUATTRONE A.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/1057
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