4.7 Editorial Material

TWO NOVEL HTRA1 MUTATIONS IN A EUROPEAN CARASIL PATIENT

Journal

NEUROLOGY
Volume 82, Issue 10, Pages 898-900

Publisher

LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000000202

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Funding

  1. MIUR [20095JPSNA_005]
  2. Ministry of Health
  3. Regione Toscana (Regional Health Research Program)

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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.(1) The disease has been linked to mutations in the HTRA1 gene, encoding for serine protease HTRA1, loss of which causes dysregulation of transforming growth factor- signaling.(2

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