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Clinical Manifestations.

Carolina Agata Ardohain Cristalli1, Julieta Rosales2, Fabio Gonzalez3

  • 1Fleni, Buenos Aires, Buenos Aires, Argentina.

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Summary
This summary is machine-generated.

The CADASIL Argentine registry (CADASILAr) establishes the first Latin American cohort for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Preliminary findings reveal common clinical features and genetic mutations, paving the way for future research.

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Area of Science:

  • Neurology
  • Genetics
  • Epidemiology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a prevalent hereditary small vessel disease causing early stroke and cognitive impairment.
  • Latin American data on CADASIL are limited, necessitating focused research initiatives.
  • The CADASIL Argentine registry (CADASILAr) was established to consolidate clinical data and foster international collaboration.

Purpose of the Study:

  • To present the cohort design of the CADASIL Argentine registry (CADASILAr).
  • To report preliminary cross-sectional findings from Argentinian patients with CADASIL.
  • To establish a framework for studying disease progression and cognitive decline in Latin America.

Main Methods:

  • CADASILAr is a multisite Argentinian cohort study with cross-sectional and longitudinal phases.
  • Adults (≥18 years) with confirmed or suspected CADASIL are enrolled.
  • Data collected include demographics, clinical features, neuroimaging, genetics, and vascular risk factors, with plans for annual follow-ups and biobanking.

Main Results:

  • Preliminary data from 90 patients show a mean age of 43.8 years, with 91.6% having a family history.
  • Common presentations include cerebrovascular events (72.9%), cognitive impairment (56.7%), and migraine (69%).
  • NOTCH3 mutations were identified in all confirmed cases, with a median MMSE score of 28.

Conclusions:

  • CADASILAr represents the first systematic study of CADASIL in Latin America and the twelfth global registry.
  • The registry provides a robust platform for investigating genetic, neuroimaging, and cognitive outcomes in CADASIL.
  • It aims to advance research and understanding through integrated baseline and longitudinal data and international collaborations.