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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-β signaling.2
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Supplemental data at Neurology.org
Author contributions: S. Bianchi, PhD: study concept, acquisition and interpretation of data, drafting and revising the manuscript. C. Di Palma, Bsc: acquisition and interpretation of data. G.N. Gallus, PhD: acquisition and interpretation of data, critical revision of the manuscript. I. Taglia, BSc: acquisition and interpretation of data. A. Poggiani, BSc: acquisition and interpretation of data. F. Rosini, MD: acquisition and interpretation of data, drafting the manuscript. A. Rufa, MD: study concept, acquisition and interpretation of data, drafting and revising the manuscript, including medical writing for content. D.F. Muresanu, MD: acquisition and interpretation of data. A. Cerase, MD: acquisition and interpretation of data, critical revision of the manuscript. M.T. Dotti, MD: study concept, drafting and revising the manuscript, including medical writing for content. A. Federico, MD: study concept, drafting and revising the manuscript, including medical writing for content.
Study funding: Supported by MIUR (prot. 20095JPSNA_005) (M.T.D.) and by Ministry of Health and Regione Toscana (Regional Health Research Program 2009) (A.F.).
Disclosure: The authors report no disclosures relevant to the manuscript. Go to Neurology.org for full disclosures.
- Received June 14, 2013.
- Accepted in final form November 26, 2013.
- © 2014 American Academy of Neurology
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