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Autor(en) / Beteiligte

Titel

The role of clinical and neuroimaging features in the diagnosis of CADASIL

Ist Teil von

Ort / Verlag

Berlin/Heidelberg: Springer Berlin Heidelberg

Erscheinungsjahr

2018

Quelle

MEDLINE

Beschreibungen/Notizen

Background Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common familial cerebral small vessel disease, caused by NOTCH3 gene mutations. The aim of our study was to identify clinical and neuroradiological features which would be useful in identifying which patients presenting with lacunar stroke and TIA are likely to have CADASIL. Methods Patients with lacunar stroke or TIA were included in the present study. For each patient, demographic and clinical data were collected. MRI images were centrally analysed for the presence of lacunar infarcts, microbleeds, temporal lobe involvement, global atrophy and white matter hyperintensities. Results 128 patients (mean age 56.3 ± 12.4 years) were included. A NOTCH3 mutation was found in 12.5% of them. A family history of stroke, the presence of dementia and external capsule lesions on MRI were the only features significantly associated with the diagnosis of CADASIL. Although thalamic, temporal pole gliosis and severe white matter hyperintensities were less specific for CADASIL diagnosis, the combination of a number of these factors together with familial history for stroke result in a higher positive predictive value and specificity. Conclusions A careful familial history collection and neuroradiological assessment can identify patients in whom NOTCH3 genetic testing has a higher yield.

Sprache: Englisch
Identifikatoren: ISSN: 0340-5354
eISSN: 1432-1459
DOI: 10.1007/s00415-018-9072-8
Titel-ID: cdi_proquest_miscellaneous_2119918970

Format: –
Schlagworte: Adult, Aged, Atrophy, Brain - diagnostic imaging, CADASIL - diagnosis, CADASIL - genetics, CADASIL - physiopathology, Cerebral Hemorrhage - diagnosis, Cerebral Hemorrhage - genetics, Cerebral Hemorrhage - physiopathology, Dementia disorders, Diagnosis, Female, Genetic screening, Gliosis, Humans, Ischemic Attack, Transient - diagnosis, Ischemic Attack, Transient - genetics, Ischemic Attack, Transient - physiopathology, Leukoencephalopathy, Magnetic Resonance Imaging, Male, Medicine, Medicine & Public Health, Middle Aged, Mutation, Neuroimaging, Neurology, Neuroradiology, Neurosciences, Notch3 protein, Original Communication, Prospective Studies, Receptor, Notch3 - genetics, Stroke, Stroke, Lacunar - diagnosis, Stroke, Lacunar - genetics, Stroke, Lacunar - physiopathology, Substantia alba, Temporal lobe, Thalamus, Transient ischemic attack, Vascular diseases, White Matter - diagnostic imaging

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