Occurrence, Risk Factors, and Prognosis of Acute Cerebral Microinfarcts in CADASIL
Xuejiao Men1, Hui Li1, Zhuoxin Guo2
1Department of Neurology, Mental and Neurological Disease Research Center, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
Insights
Acute cerebral microinfarcts (ACMIs) are common in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL), especially with patent foramen ovale (PFO). While ACMIs often resolve, they are linked to worse functional outcomes and quality of life.
Area of Science:
- Neurology
- Cerebrovascular Diseases
- Medical Imaging
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the leading monogenic adult cerebral small vessel disease.
- This study focuses on the incidence, risk factors, and prognosis of acute cerebral microinfarcts (ACMIs) within the CADASIL population.
Purpose of the Study:
- To investigate the occurrence and risk factors of ACMIs in patients diagnosed with CADASIL.
- To evaluate the prognostic implications of ACMIs on functional outcomes, cognitive performance, and quality of life in CADASIL patients.
Main Methods:
- Sixty patients with confirmed CADASIL underwent diffusion-weighted imaging (DWI) to identify ACMIs (<5mm hyperintense lesions).
- MRI follow-up at 1 year assessed ACMI evolution; functional status (mRS), cognition (MoCA), and quality of life (EQ-5D-3L) were evaluated at 6, 12, and 24 months.
Main Results:
- ACMIs were detected in 20% of CADASIL patients, primarily in white matter.
- A patent foramen ovale (PFO) significantly increased ACMI risk (OR, 16.429).
- Most ACMIs resolved by 1 year; however, patients with ACMIs showed poorer functional outcomes and quality of life at follow-up.
Conclusions:
- ACMIs are a notable finding in CADASIL patients and are independently predicted by PFO.
- While many ACMIs resolve within a year, their presence correlates with long-term declines in functional status and quality of life.
- These findings highlight the clinical significance of ACMIs in CADASIL, particularly in the context of PFO.
Introduction:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cerebral small vessel disease in adults. This study investigates the occurrence, risk factors, and prognosis of acute cerebral microinfarcts (ACMIs) in patients with CADASIL.
Methods:
A total of 60 patients with genetically confirmed or pathologically verified CADASIL were enrolled in the study. ACMIs were identified as hyperintense lesions on diffusion-weighted imaging (DWI) with a diameter of less than 5 mm. The evolution of ACMIs was determined by brain MRI scans at 1 year of follow-up. Functional outcomes, cognitive performance, and quality of life after ACMIs were evaluated at months 6, 12, and 24, respectively.
Results:
ACMIs were observed in 12 out of 60 patients (20%) with CADASIL and predominantly located in the white matter. Patients with CADASIL had a significantly higher risk of ACMIs when they had a patent foramen ovale (PFO) (OR, 16.429). On follow-up MRI scans at month 12, the majority of ACMIs vanished. Patients with ACMIs had worse functional outcomes, as indicated by higher mRS scores and lower MoCA scores at months 12 and 24 compared with those without ACMIs. Additionally, patients with ACMIs had significantly worse EQ-5D-3L scores at all follow-up points compared with patients without ACMIs.
Conclusions:
ACMIs were not rare in patients with CADASIL. PFO could independently predict the risk of ACMIs in CADASIL. Furthermore, the majority of ACMIs can disappear at 1 year of follow-up. The findings indicate that ACMIs, influenced by PFO, are prevalent in CADASIL and associated with a decline in quality of life and functional outcomes over time.
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