Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

@article{Verdura2015HeterozygousHM,
  title={Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.},
  author={Edgard Verdura and Dominique Herv{\'e} and Eva Maria Scharrer and Maria del Mar Amador and Lucie Guyant-Mar{\'e}chal and A. Philippi and Astrid Corlob{\'e} and Françoise Bergametti and Steven Gazal and Carol Prieto-Morin and Nathalie Beaufort and Benoit Le Bail and Irina Viakhireva and Martin Dichgans and Hugues Chabriat and Christof Haffner and Elisabeth Tournier-Lasserve},
  journal={Brain : a journal of neurology},
  year={2015},
  volume={138 Pt 8},
  pages={2347-58}
}
Cerebral small vessel disease represents a heterogeneous group of disorders leading to stroke and cognitive impairment. While most small vessel diseases appear sporadic and related to age and hypertension, several early-onset monogenic forms have also been reported. However, only a minority of patients with familial small vessel disease carry mutations in one of known small vessel disease genes. We used whole exome sequencing to identify candidate genes in an autosomal dominant small vessel… CONTINUE READING
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