Two novel HTRA1 mutations in a European CARASIL patient.

@article{Bianchi2014TwoNH,
  title={Two novel HTRA1 mutations in a European CARASIL patient.},
  author={Silvia C. S. Bianchi and Chiara Di Palma and Gian Nicola Gallus and Ilaria Taglia and Antonella Poggiani and Francesca Rosini and Alessandra Rufa and Dafin Fior Mureșanu and Alfonso Cerase and Maria Teresa Dotti and Antonio Federico},
  journal={Neurology},
  year={2014},
  volume={82 10},
  pages={898-900}
}
Supplemental data at Neurology.org TWO NOVEL HTRA1 MUTATIONS IN A EUROPEAN CARASIL PATIENT Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a hereditary, nonhypertensive cause of recurrent lacunar stroke and cognitive decline associated with alopecia, spondylosis deformans, and lumbago. The disease has been linked to mutations in the HTRA1 gene, encoding for serine protease HTRA1, loss of which causes dysregulation of transforming growth… CONTINUE READING