Objectives: To describe the study design and baseline characteristics of the Brain Aging National Cohort (BANC)-Peking Union Medical College (PUMC), a study aiming to identify risk and protective factors that contribute to brain aging and age-related neurological diseases.

Methods: The BANC-PUMC is a longitudinal study established in 2017 in the city of Beijing, enrolling participants who agreed to donate their bodies and brains for medical research. Participants received face-to-face clinical evaluations including questionnaires, physical examinations, and comprehensive cognitive assessments. Biological samples and brain magnetic resonance images were collected. Neuropathological evaluation of the autopsied brain is performed.

Results: Among the 885 participants, 43.3% were men, and the mean age of the cohort was 71.3 ± 8.2 years. The participants were predominantly equipped with high-level education, and they had an average of 12 years (SD 3.6) of education. The most common chronic disease of participants was hypertension (61.4%). The proportion of Mini-Mental State Examination scores below 24 was 4.3%. The cohort has been followed up annually.

Conclusions: The BANC-PUMC study has the potential to unravel the causes and consequences of age-related neurological diseases via a clinicopathological correlation study. The program will continue and allow further follow-up and extension of current investigations.

Heterozygous HTRA1-autosomal dominant disease is a gradually recognized hereditary cerebral small vessel disease (cSVD) characterized by debilitating conditions and extensive white matter hyperintensities (WMHs), but doubts remain on the underlying mechanisms of this disease. This review summarizes the clinical, MRI, and molecular genetics features of heterozygous HTRA1-autosomal dominant disease in combination with two better-studied hereditary cSVDs. A total of 31 mutations in HTRA1-autosomal dominant cases documented between 2020 and 2023 were also reviewed, characterizing the mutation features and clinical manifestations. This review aims to gain better insight into the unique characteristics of the disease and its correlations with other hereditary cSVDs.

Background: Cerebral venous sinus thrombosis (CVST) is a rare cerebrovascular disease with a relatively high mortality and disability, which mainly affects young adults and children. Anticoagulation is currently the mainstay of treatment. Rapid diagnosis and prompt identification of the etiology of CVST are of great significance for the prognosis of this potentially life-threatening condition.

Case presentation: We presented a case of recurrent cerebral venous sinus thrombosis complicated with deep venous thrombosis (DVT) due to a large fragment duplication of the factor IX gene region on the X chromosome in a young adult. Long-term rivaroxaban anticoagulant treatment was suggested, and no thrombosis events occurred under regular follow-up.

Conclusion: Hereditary hyperactivity of coagulation factor IX is one of the relatively rare causes of hereditary hypercoagulability, which often causes venous thrombosis of lower limbs and rarely involves intracranial venous sinus, expanding the spectrum of etiology of this disorder and deserves attention.