Article
Homozygosity and severity of phenotypic presentation in a CADASIL family.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jan 2014
Vinciguerra Claudia, Rufa Alessandra, Bianchi Silvia, Sperduto Antonio, De Santis Monica, Malandrini Alessandro, Dotti Maria Teresa, Federico Antonio
Abstract excerpt
Most of causative mutations of the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) are missense point mutations either creating or deleting one cysteine residue, inherited in a heterozygous state. Only few homozygous patients are reported to date and some of them showed phenotypic peculiarities. We here describe a CADASIL family in which a member showed...
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