Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Neurology. 1999 Jun 10;52(9):1913-5.

Diagnostic Notch3 sequence analysis in CADASIL: three new mutations in Dutch patients. Dutch CADASIL Research Group.

Author information

  • 1Department of Clinical Genetics, Leiden University Medical Center, The Netherlands.

Abstract

To confirm the clinical diagnosis in individual Dutch patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), we performed direct sequence analysis of the abnormal gene, Notch3, in patients from 11 families without prior linkage analysis to chromosome 19. Eleven missense mutations involving the loss or gain of a cysteine residue were found, of which 3 are new. Exon 4 is a mutation hotspot (9 of 11 families). Notch3 sequence analysis of CADASIL patients in a diagnostic laboratory is a feasible procedure to confirm the clinical diagnosis in individual patients.

PMID:
10371548
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Write to the Help Desk