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March 11, 2014; 82 (10) Clinical/Scientific Notes

Two novel HTRA1 mutations in a European CARASIL patient

Silvia Bianchi, Chiara Di Palma, Gian Nicola Gallus, Ilaria Taglia, Antonella Poggiani, Francesca Rosini, Alessandra Rufa, Dafin Fior Muresanu, Alfonso Cerase, Maria Teresa Dotti, Antonio Federico
First published February 5, 2014, DOI: https://doi.org/10.1212/WNL.0000000000000202
Silvia Bianchi
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy “Iuliu Hatieganu,” Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico “Santa Maria alle Scotte,” Siena, Italy.
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Chiara Di Palma
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy “Iuliu Hatieganu,” Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico “Santa Maria alle Scotte,” Siena, Italy.
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Gian Nicola Gallus
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy “Iuliu Hatieganu,” Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico “Santa Maria alle Scotte,” Siena, Italy.
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Ilaria Taglia
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy “Iuliu Hatieganu,” Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico “Santa Maria alle Scotte,” Siena, Italy.
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Antonella Poggiani
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy “Iuliu Hatieganu,” Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico “Santa Maria alle Scotte,” Siena, Italy.
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Francesca Rosini
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy “Iuliu Hatieganu,” Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico “Santa Maria alle Scotte,” Siena, Italy.
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Alessandra Rufa
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy “Iuliu Hatieganu,” Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico “Santa Maria alle Scotte,” Siena, Italy.
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Dafin Fior Muresanu
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy “Iuliu Hatieganu,” Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico “Santa Maria alle Scotte,” Siena, Italy.
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Alfonso Cerase
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy “Iuliu Hatieganu,” Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico “Santa Maria alle Scotte,” Siena, Italy.
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Maria Teresa Dotti
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy “Iuliu Hatieganu,” Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico “Santa Maria alle Scotte,” Siena, Italy.
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Antonio Federico
From the Department of Medical, Surgical and Neurological Sciences (S.B., C.D.P., G.N.G., I.T., A.P, F.R., A.R., M.T.D., A.F.), University of Siena, Siena, Italy; Department of Neurology (D.F.M.), University of Medicine and Pharmacy “Iuliu Hatieganu,” Cluj-Napoca, Romania; and Neuroimaging and Neurointervention Unit (A.C.), Azienda Ospedaliera Universitaria Senese, Policlinico “Santa Maria alle Scotte,” Siena, Italy.
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Citation
Two novel HTRA1 mutations in a European CARASIL patient
Silvia Bianchi, Chiara Di Palma, Gian Nicola Gallus, Ilaria Taglia, Antonella Poggiani, Francesca Rosini, Alessandra Rufa, Dafin Fior Muresanu, Alfonso Cerase, Maria Teresa Dotti, Antonio Federico
Neurology Mar 2014, 82 (10) 898-900; DOI: 10.1212/WNL.0000000000000202

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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

Footnotes

  • 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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