Abstract
Background and PurposeRecent data suggest that early symptoms may be related to cortex alterations in CADASIL (Cerebral Autosomal-Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy), a monogenic model of cerebral small vessel disease (SVD). The aim of this study was to investigate cortical alterations using both high-resolution T2* acquisitions obtained with 7 Tesla MRI and structural T1 images with 3 Tesla MRI in CADASIL patients with no or only mild symptomatology (modified Rankin’s scale ≤1 and Mini Mental State Examination (MMSE) ≥24).MethodsComplete reconstructions of the cortex using 7 Tesla T2* acquisitions with 0.7 mm isotropic resolution were obtained in 11 patients (52.1±13.2 years, 36% male) and 24 controls (54.8±11.0 years, 42% male). Seven Tesla T2* within the cortex and cortical thickness and morphology obtained from 3 Tesla images were compared between CADASIL and control subjects using general linear models.ResultsMMSE, brain volume, cortical thickness and global sulcal morphology did not differ between groups. By contrast, T2* measured by 7 Tesla MRI was significantly increased in frontal, parietal, occipital and cingulate cortices in patients after correction for multiple testing. These changes were not related to white matter lesions, lacunes or microhemorrhages in patients having no brain atrophy compared to controls.ConclusionsSeven Tesla MRI, by contrast to state of the art post-processing of 3 Tesla acquisitions, shows diffuse T2* alterations within the cortical mantle in CADASIL whose origin remains to be determined.
Highlights
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary cerebral small vessel disease (SVD) caused by mutations of the NOTCH3 gene [1]
The aim of the present study was to investigate the cortex morphology using state of the art post-processing of 3 Tesla 3D T1 acquisitions together with its structure using high-resolution T2* 7 Tesla acquisitions in CADASIL patients at the early stage of the disease, with no or only mild symptomatology, by comparison to age and sex matched controls
The present data originate from a prospective study of CADASIL patients with genetically confirmed diagnosis, without dementia (MMSE score $24) and without significant disability dedicated to the study of early cognitive symptoms in this disorder
Summary
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary cerebral small vessel disease (SVD) caused by mutations of the NOTCH3 gene [1]. It is widely recognized as a unique model for the study of more prevalent forms of SVD related to aging and hypertension [2]. The observed modifications of sulcal morphology could be linked to underlying white matter structure changes [10] or to actual cortex involvement The latter hypothesis could involve focal intracortical small-sized lesions [4], cortical demyelination [11] or increased iron content due to secondary degeneration, as reported previously in deep nuclei in CADASIL [12], all of which may translate in alterations of T2* measured using 7 Tesla MRI within the cortical mantle [13]. The aim of this study was to investigate cortical alterations using both high-resolution T2* acquisitions obtained with 7 Tesla MRI and structural T1 images with 3 Tesla MRI in CADASIL patients with no or only mild symptomatology (modified Rankin’s scale #1 and Mini Mental State Examination (MMSE) $24)
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