This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
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 …
AAN Members
We have changed the login procedure to improve access between AAN.com and the Neurology journals. If you are experiencing issues, please log out of AAN.com and clear history and cookies. (For instructions by browser, please click the instruction pages below). After clearing, choose preferred Journal and select login for AAN Members. You will be redirected to a login page where you can log in with your AAN ID number and password. When you are returned to the Journal, your name should appear at the top right of the page.
AAN Non-Member Subscribers
Purchase access
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Cutaneous α-Synuclein Signatures in Patients With Multiple System Atrophy and Parkinson Disease
Dr. Rizwan S. Akhtar and Dr. Sarah Brooker
► Watch
Topics Discussed
Alert Me
Recommended articles
Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL
Two novel HTRA1 mutations in a European CARASIL patient
Cerebral small vessel disease due to a unique heterozygous HTRA1 mutation in an African man
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population