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
MAZZEI R, CONFORTI FL, LANZA PL, SPROVIERI T, LUPO MR, GALLO O, et al. (2004). A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL. NEUROLOGY, 63(3), 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 residueI documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
