Shifting the CARASIL paradigm: report of a non-Asian family and literature review.

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Abstract

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare form of nonhypertensive cerebral small-vessel disease caused by mutations in the HTRA1 gene. CARASIL is characterized by early adulthood onset of subcortical infarcts, cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively reported in the Asian population.

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Author and article information

Journal

Journal ID (iso-abbrev): Stroke

Title: Stroke

Publisher: Ovid Technologies (Wolters Kluwer Health)

ISSN (Electronic): 1524-4628

ISSN (Print): 0039-2499

Publication date (Electronic): Apr 2015

Volume: 46

Issue: 4

Affiliations

[1 ] From the Department of Neurology, Centro Hospitalar do Algarve, Hospital de Faro, Portugal (I.M.C., H.N., F.S., L.A., C.B.); Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (R.B.F., I.A.); Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal (R.B.F., I.A.); and UnIGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (I.A.). ines.mcordeiro@gmail.com.

[2 ] From the Department of Neurology, Centro Hospitalar do Algarve, Hospital de Faro, Portugal (I.M.C., H.N., F.S., L.A., C.B.); Centro de Genética Preditiva e Preventiva, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (R.B.F., I.A.); Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Portugal (R.B.F., I.A.); and UnIGENe, Instituto de Biologia Molecular e Celular, Universidade do Porto, Portugal (I.A.).

Article

Publisher Item ID: STROKEAHA.114.006735

DOI: 10.1161/STROKEAHA.114.006735

PubMed ID: 25712943

SO-VID: b4091547-1674-498e-a9d9-2a51ea91e4f9

History

Keywords: CARASIL,HTRA1

Data availability:

Keywords: CARASIL, HTRA1

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