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

作者信息

Mazzei R, Conforti F L, Lanza P L, Sprovieri T, Lupo M R, Gallo O, Patitucci A, Magariello A, Caracciolo M, Gabriele A L, Fera F, Valentino P, Bono F, Cenacchi G, Santoro G, Muglia M, Quattrone A

机构信息

Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.

出版信息

Neurology. 2004 Aug 10;63(3):561-4. doi: 10.1212/01.wnl.0000133399.37716.84.

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 unpaired 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.