Brain volume changes in CADASIL: a serial MRI study in pure subcortical ischemic vascular disease

Topic: Brain proteins, microglia and lab models

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease causing stroke and subcortical vascular dementia. Recent studies in sporadic subcortical ischemic vascular disease have drawn attention to brain atrophy as a clinically important marker of disease progression. However, little is known about the role of brain atrophy and its clinical correlates in CADASIL. Method The authors determined the normalized brain volume (NBV) and percent brain volume change (PBVC) over 2 years in 76 CADASIL subjects (45.1 +/- 9.7 years) using the SIENA (structural image evaluation using normalization of atrophy) software and its adaptation for cross-sectional measurements (SIENAX). Baseline assessments included systolic blood pressure (SBP), homocysteine levels, BMI, and APOE genotyping. T2-lesion volumes and clinical scales were assessed at both time points. Results The NBV significantly correlated with all clinical scores (Rankin, NIH Stroke Scale, Barthel, structured interview for the diagnosis of Alzheimer dementia and multi-infarct dementia, Mattis dementia rating scale) at both time points independently of age and sex. PBVC correlated with changes of all clinical scores (all p Conclusions This study identifies brain atrophy as an important aspect of the disease process in CADASIL and establishes significant correlations with multiple clinical aspects including cognition. Age and systolic blood pressure are risk factors for brain volume loss during follow-up. Percent brain volume change seems promising as an adjunct outcome measure in future interventional trials.

Key findings

• Results The NBV significantly correlated with all clinical scores (Rankin, NIH Stroke Scale, Barthel, structured interview for the diagnosis of Alzheimer dementia and multi-infarct dementia, Mattis dementia rating scale) at both time points independently of age and sex.
• PBVC correlated with changes of all clinical scores (all p Conclusions This study identifies brain atrophy as an important aspect of the disease process in CADASIL and establishes significant correlations with multiple clinical aspects including cognition.

Why it matters

In 76 people with CADASIL, an inherited small vessel disease causing stroke and subcortical vascular dementia, brain volume and its two-year change were linked to clinical scores. This identifies brain atrophy as an important part of the disease process in CADASIL, though this study is about CADASIL rather than Alzheimer's disease itself.

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Study details

• Study designcross-sectional
• Evidence strengthLow

Read the original

• DOI: 10.1212/01.wnl.0000216271.96364.50
• PubMed: 16717211
• Original source →

May need a subscription Unpaywall, Europe PMC and OpenAlex found no free copy of the full text (checked 10 Oct 2026), so the publisher may charge for it. The PubMed abstract is free.

@article{peters2006-16717211,
  author  = {Peters, N. and Holtmannspötter, M. and Opherk, C. and Gschwendtner, A. and Herzog, J. and Sämann, P. and Dichgans, M.},
  title   = {{Brain volume changes in CADASIL: a serial MRI study in pure subcortical ischemic vascular disease}},
  journal = {Neurology},
  year    = {2006},
  doi     = {10.1212/01.wnl.0000216271.96364.50},
  pmid    = {16717211},
  url     = {https://doi.org/10.1212/01.wnl.0000216271.96364.50}
}

Studies this one cites

Referenced by this study and also in the alzhub library, so you can read them here.

• Longitudinal volumetric MRI change and rate of cognitive decline Neurology · 2005-08-01 · usefulness score 66/100 · Brain scans and imaging
• Imaging cerebral atrophy: normal ageing to Alzheimer's disease Lancet (London, England) · 2004-01-01 · usefulness score 62/100 · How common it is
• Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia Nature · 1996-10-01 · usefulness score 58/100 · Lewy body dementia
• Clinical spectrum of CADASIL: a study of 7 families. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy Lancet (London, England) · 1995-10-01 · usefulness score 57/100 · Getting a diagnosis
• Change in rates of cerebral atrophy over time in early-onset Alzheimer's disease: longitudinal MRI study Lancet (London, England) · 2003-10-01 · usefulness score 57/100 · Cognitive tests and assessment
• Diffusion magnetic resonance histograms as a surrogate marker and predictor of disease progression in CADASIL: a two-year follow-up study Stroke · 2005-11-03 · usefulness score 52/100 · Brain scans and imaging

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