Introduction. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary, small-artery disease that can present with recurrent transient ischemic attacks, migraine and strokes and can evolve to dementia, depression, pseudobulbar palsy and hemi- or quadriplegia. Several magnetic resonance imaging studies showed the presence of abnormalities in the brain and in the brainstem on T2-weighted images in clinically affected subjects. Post-mortem studies showed abnormalities also within vessels of muscle, skin or nerve biopsies thus demonstrating that the underlying pathology is a generalized vasculopathy. Objectives. The aims of this study were to assess: (a) the presence and extent of macroscopic lesions using conventional sequences and (b) the overall disease burden (i.e., microscopic and macroscopic), using magnetization transfer ratio (MTR) histogram analysis, in the cervical cord of CADASIL patients. Methods. We studied 25 CADASIL patients and 14 age- and sex-matched normal subjects. The following sequences were acquired: (a) sagittal T2-weighted fast spin-echo, (b) sagittal fast short tau inversion recovery (fast-STIR), (c) sagittal T1-weighted conventional spin-echo; and (d) axial 2D gradient-echo (GE) with and without a saturation pulse. A review of all the scans from each subject was performed by two observers. Cervical cord MTR histograms were obtained from all patients and controls. For each histogram, the following measures were derived: the relative peak height, the peak position, the average MTR, and the number of segmented pixels. Results. No abnormalities were found in the healthy controls on any of the sequences. No abnormalities were detected in the cervical spinal cord of CADASIL patients on conventional MR sequences (T2-weighted, fast STIR and T1-weighted). Considering MTR histogram metrics, CADASIL patients had significantly lower peak height than healthy controls (P = 0.02), while there were no differences in the other MTR histogram metrics. Conclusions. Our study shows that cervical cord signal abnormalities are not a common finding in CADASIL patients. Even if CADASIL is a systemic arterial disease, it is clinically confined to the central nervous system. MTR histogram analysis showed a lower peak height in CADASIL patients than in healthy controls. This could be due to axonal degeneration secondary to the damage of the brain or to the presence of small abnormalities of the cord vessels.
|Issue number||4 SUPPL.|
|Publication status||Published - 2000|
ASJC Scopus subject areas
- Clinical Neurology