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- Title
GENETIC DIAGNOSIS OF CADASIL: REPORT OF THREE CASES.
- Authors
Farías Gontupil, Gonzalo; Iturra Constant, Patricia; Trujillo Godoy, Osvaldo; Sáez Méndez, David
- Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited disease characterized by subcortical cerebral ischemic events, migraine, dementia and mood disorders. it is produced by mutations in the transmembrane receptor NOTCH 3 gen, which are commonly found in exons 3 and 4. We review the clinical and imagenologic data of two patients of our hospital with the diagnosis of CADASIL. We purified genomic DNA of the two patients and also analyzed a sample obtained from the sister of one of the patients. PCR amplification and direct sequentiation of both strands of DNA for NOTCH 3 exons 3 and 4 was performed. The C346T mutation in exon 3 was found in the first patient, while in the second patient and his sister, who has history of migraine, C475T mutation in exon 4 was present. Our results are consistent with previous reports which indicate that exons 3 and 4 are frequent sites of CADASIL causing mutations. We also discuss the diagnostic utility of genetic testing for CADASIL.
- Subjects
BRAIN diseases
- Publication
Neurotoxicity Research, 2008, Vol 13, Issue 2, p145
- ISSN
1029-8428
- Publication type
Abstract