A novel mutation in the HTRA1 gene causes CARASIL without alopecia
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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is caused by a mutation in the high-temperature requirement A serine peptidase 1 (HTRA1) gene.1 Alopecia, spondylosis, and cognitive impairment are the clinical triad. Alopecia does not necessarily appear in all patients with CARASIL, but this feature contributes to an early diagnosis.1,2 We present the case of a patient with CARASIL who had a novel mutation in the HTRA1 gene and did not show alopecia even 10 years after onset.
Case history.
The patient was a 44-year-old woman. Her oldest brother had developed progressive dementia and motor dysfunctions from age 38. His imaging studies revealed spondylosis and extensive leukoencephalopathy. Although he did not lose hair even at 14 years after onset [figure, A(a)], he was clinically diagnosed with CARASIL at age 39. The patient's younger brother is healthy.
(A) The pedigree of the family with CARASIL. Arrow, the patient; the number under each symbol, age; CI, cerebral infarction(s); squares, men; circles, women; rhombic symbols, patients of undefined sex; solid symbols, affected family members; asterisk, healthy sibling. Insets are pictures of the eldest brother (a) and the patient (b). (B) The novel mutation in the HTRA1 genomic DNA. Note that 2 patients with CARASIL have a novel homozygous mutation consisting of a substitution of guanine-to-adenine at codon 821. The healthy controls have G/G, and the younger sibling without any symptoms has the heterozygous mutation G/A at the corresponding codon. Arrows indicate codon 821. (C) Distribution of mutations inducing CARASIL and known functional …
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