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Elderly CADASIL patients with intact neurological status
Ruiting Zhang1,2, Elisa Ouin3, Lina Grosset1,4
1Paris-Cité University, Inserm U1141 NeuroDiderot, Paris, France.
Journal of Stroke
|October 12, 2022
Summary
Nearly 20% of older Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) patients remain neurologically intact. These individuals show distinct clinical and imaging features compared to symptomatic patients, suggesting unique preservation mechanisms.
Area of Science:
- Neurology
- Genetics
- Vascular Biology
Background:
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a severe inherited small vessel disease.
- Aging exacerbates CADASIL, yet some patients remain neurologically intact (Nint).
Purpose of the Study:
- To characterize the clinical, imaging, and molecular profiles of neurologically intact (Nint) older CADASIL patients.
- To compare Nint individuals with age-matched CADASIL patients exhibiting permanent neurological symptoms (Nps).
Main Methods:
- Analysis of 472 CADASIL patients, selecting individuals over 65 years.
- Defined Nint as absence of focal deficit, cognitive impairment, or disability.
- Compared demographic, genetic, clinical, and imaging data between Nint and Nps groups.
Main Results:
- 17.8% of older CADASIL patients were Nint.
- Nint patients had fewer strokes, more migraine with aura, and less severe lacunes, microbleeds, and brain atrophy than Nps patients.
- Vascular risk factors and NOTCH3 mutations in EGFr domains 7-34 did not differ between groups.
Conclusions:
- A significant proportion of older CADASIL patients can maintain neurological function.
- Distinct clinical and imaging characteristics differentiate Nint from Nps CADASIL patients.
- The precise factors preserving brain tissue in Nint individuals require further investigation.
