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Novel grading system for CADASIL severity: A multicenter cross-sectional study.

Bhrugun Anisetti1, Elena Greco1, Eldina Stojadinovic1

  • 1Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.

Cerebral Circulation - Cognition and Behavior
|July 13, 2023
PubMed
Summary
This summary is machine-generated.

A new grading system for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is reliable and practical for clinical use. This system effectively categorizes patients based on disease severity and aids in research by correlating higher grades with increased vascular risk factors.

Keywords:
CADASILGrading systemMulticenter

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Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a progressive, inherited cerebral microangiopathy.
  • CADASIL exhibits significant variability in its clinical presentation (phenotype).

Purpose of the Study:

  • To assess the generalizability and reliability of a new grading system for CADASIL across multiple US centers.
  • To evaluate the proposed CADASIL grading system in a real-world clinical setting.

Main Methods:

  • Retrospective review of electronic medical records (EMR) for 138 adult patients with confirmed CADASIL across 5 specialized centers.
  • Patients were classified into 5 grades (0-4) based on clinical severity. Inter-rater reliability (IRR) was assessed.
  • Demographic, vascular risk factor, and neuroimaging data were collected and analyzed.

Main Results:

  • The CADASIL grading system demonstrated acceptable inter-rater reliability (κ=0.855).
  • The distribution of grades was: Grade 0 (10.9%), Grade 1 (36.2%), Grade 2 (44.2%), Grade 3 (8.7%), and Grade 4 (0%).
  • Higher severity grades were associated with younger age at assessment, increased prevalence of hypertension and diabetes, and a greater burden of vascular risk factors.

Conclusions:

  • The proposed CADASIL grading system is a pragmatic and reliable tool for phenotyping CADASIL patients.
  • The system requires only standard clinical data, making it easily applicable in routine practice.
  • This grading system can facilitate patient categorization in observational and interventional studies for CADASIL.