CADASIL type 2 with Parkinson syndrome as the initial symptom:a case report and literature review
Zhou Qihui
Yang Lei
Hu Wenli
Abstract：Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary small vessel disease of the brain. Recent studies have found that heterozygous mutations in the HTRA1 gene are associated with cerebral autosomal dominant arteriopathy, known as CADASIL type 2 [1-2]. CADASIL type 2 is more common in middle-aged and elderly populations, and clinical manifestations often include cognitive impairment, acute cerebrovascular disease, hair loss, and motor disorders, and are usually not accompanied by risk factors for cerebrovascular disease such as hypertension or diabetes [3]. This article reports a case of a patient with "tremor and motor disorder" as the initial symptom, confirmed by genetic testing to have a heterozygous mutation in HTRA1, and discusses the clinical characteristics of the patient. The study has been approved by the Ethics Committee of Beijing Chaoyang Hospital, Capital Medical University (Approval No.: 2022-Ke-553).
Keywords：CADASIL type 2HTRA1 geneHeterozygous mutationParkinson syndromeHereditary cerebral small vessel disease
Publication Date：2025-10-20
Online Publishing Date：2025-10-29(First online date of this platform, not the publication date of the document)
Pages：5( 752-756 )