Article
A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene.
Journal of the neurological sciences - 15 Dec 2001
de Freitas G R, Miklossy J, Christen-Zäch S, Reichhart M, Bogousslavsky J
Abstract excerpt
The diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is usually confirmed by genetic testing or skin biopsy. We here report the case of a 69-year-old woman with recurrent transient ischemic attacks (TIAs) and strokes, seizures, and dementia without any mutations in exons 3 and 4 of the Notch3 gene and with a normal skin biopsy, but who showed...
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