A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene

G R de Freitas; J Miklossy; S Christen-Zäch; M Reichhart; J Bogousslavsky

doi:10.1016/s0022-510x(01)00579-2

A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene

J Neurol Sci. 2001 Dec 15;193(1):43-7. doi: 10.1016/s0022-510x(01)00579-2.

Authors

G R de Freitas¹, J Miklossy, S Christen-Zäch, M Reichhart, J Bogousslavsky

Affiliation

¹ Department of Neurology, Centre Hospitalier Universitaire Vaudois, CH1011, Lausanne, Switzerland. gfreitas@nitnet.com.br

PMID: 11718749
DOI: 10.1016/s0022-510x(01)00579-2

Abstract

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 characteristic CADASIL abnormalities on brain pathological examination. Our findings suggest that negative results in these two tests do not exclude the disease and a leptomeningeal biopsy or a second skin biopsy should be considered in such cases.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Biopsy
Brain / pathology
Brain / ultrastructure
Cerebral Arteries / pathology
Cerebral Arteries / ultrastructure
DNA Mutational Analysis
Dementia, Multi-Infarct / genetics
Dementia, Multi-Infarct / pathology*
Diagnosis, Differential
Female
Humans
Muscle, Smooth, Vascular / pathology
Muscle, Smooth, Vascular / ultrastructure
Mutation / genetics*
Proto-Oncogene Proteins / genetics*
Receptor, Notch3
Receptors, Cell Surface*
Receptors, Notch
Skin / pathology*

Substances

NOTCH3 protein, human
Proto-Oncogene Proteins
Receptor, Notch3
Receptors, Cell Surface
Receptors, Notch