Two novel HTRA1 mutations in a European CARASIL patient

Neurology. 2014 Mar 11;82(10):898-900. doi: 10.1212/WNL.0000000000000202. Epub 2014 Feb 5.

Authors

Silvia Bianchi¹, Chiara Di Palma, Gian Nicola Gallus, Ilaria Taglia, Antonella Poggiani, Francesca Rosini, Alessandra Rufa, Dafin Fior Muresanu, Alfonso Cerase, Maria Teresa Dotti, Antonio Federico

Affiliation

¹ 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.

PMID: 24500651
DOI: 10.1212/WNL.0000000000000202

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alopecia / genetics*
Cerebral Infarction / genetics*
Female
High-Temperature Requirement A Serine Peptidase 1
Humans
Leukoencephalopathies / genetics*
Mutation / genetics
Phenotype
Romania
Serine Endopeptidases / genetics*
Spinal Diseases / genetics*

Substances

High-Temperature Requirement A Serine Peptidase 1
HTRA1 protein, human
Serine Endopeptidases

Supplementary concepts

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy