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

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

  • Stroke. 2015 Apr;46(4):1110-2. doi: 10.1161/STROKEAHA.114.006735.
Inês Menezes Cordeiro 1,  Hipólito Nzwalo 2,  Francisca Sá 2,  Rita Bastos Ferreira 2,  Isabel Alonso 2,  Luís Afonso 2,  Carlos Basílio 2
Affiliations

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.).
PMID: 25712943 DOI: 10.1161/STROKEAHA.114.006735
Abstract

Background and purpose: 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.

Methods: Description of the clinical, imaging, and genetic study of 2 siblings with CARASIL, with a brief comparative review of published non-Asian cases of the disease.

Results: Both patients exhibited the typical phenotype: cerebral small-vessel disease, spondylosis, and abnormal hair lost. Mutation screening was performed for NOTCH3 and HTRA1 genes. No mutations were found in NOTCH3. The study revealed the presence of a homozygous c.496C>T substitution in HTRA1 in both siblings.

Conclusion: This report highlights the need of considering this entity in the differential diagnosis of cerebral small-vessel disease in young patients, even in the non-Asian populations.

Keywords

CARASIL; HTRA1.

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