Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL.

CONCLUSIONS: We identified 2 NOTCH3 mutations as likely genetic causes for CADASIL in these 2 patients. Our findings broaden the mutational spectrum of the NOTCH3 gene accountable for CADASIL. Clinical manifestations supplemented with molecular genetic analyses are critical for accurate diagnosis, the provision of genetic counseling, and the development of therapies for CADASIL.
PMID: 31212292 [PubMed - as supplied by publisher]

Source: Neuro-Degenerative Diseases - June 17, 2019 Category: Neurology Authors: Chen X, Deng S, Xu H, Hou D, Hu P, Yang Y, Wen J, Deng H, Yuan L Tags: Neurodegener Dis Source Type: research