Influence of vascular risk factors and neuropsychological profile on functional performances in CADASIL: results from

L Ciolli1, F Pescini, E Salvadori

  • 1NEUROFARBA Department, Neuroscience section, University of Florence, Florence, Italy.

Insights

Hypertension contributes to functional decline in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). Memory impairment significantly impacts functional abilities in CADASIL patients, unlike in age-related leukoencephalopathy.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetic small vessel disease.
  • The factors influencing CADASIL phenotype remain largely unknown.

Purpose of the Study:

  • To investigate the impact of vascular risk factors on functional abilities in CADASIL.
  • To compare cognitive domain performance and its effect on function between CADASIL and age-related leukoencephalopathy (ARL) patients.

Main Methods:

  • The MIcrovascular LEukoencephalopathy Study (MILES) included 51 CADASIL and 68 ARL patients.
  • Vascular risk factors, cognitive functions (memory, psychomotor speed, executive functions), and functional abilities (Instrumental Activities of Daily Living, Disability Assessment for Dementia) were assessed.
  • Stepwise linear regression analyzed associations between cognitive indices and functional performance.

Main Results:

  • CADASIL patients exhibited higher BMI and greater disability compared to ARL patients.
  • Hypertension was linked to poorer functional outcomes (DAD score, disability) in CADASIL.
  • While cognitive profiles were similar, memory index significantly predicted functional performance in CADASIL, whereas executive function index did in ARL.

Conclusions:

  • Hypertension appears to be a significant contributor to functional impairment in CADASIL.
  • Memory decline substantially influences functional decline in CADASIL, differing from ARL patients.
Abstract