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Published on: February 11, 2019
Neuropsychiatric manifestations in CADASIL
Hugues Chabriat1, Marie-Germaine Bousser
1Department of Neurology, Hopital Lariboisière, Université Paris VII, Denis Diderot, Paris, France. hugues.chabriat@lrb.aphp.fr
Dialogues in Clinical Neuroscience
|August 31, 2007
Summary
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic small-artery disease. MRI markers like lacunar infarctions and cerebral atrophy correlate with cognitive and motor deficits in CADASIL patients.
Area of Science:
- Neurology
- Genetics
- Vascular Medicine
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small-artery disease.
- It is caused by NOTCH3 gene mutations and leads to white-matter lesions and subcortical lacunar infarctions.
- CADASIL is a model for studying subcortical ischemic vascular dementia.
Purpose of the Study:
- To investigate the relationship between cerebral lesions and cognitive/psychiatric symptoms in CADASIL.
- To identify key imaging markers associated with disability in CADASIL.
- To explore the origins of mood disturbances in this condition.
Main Methods:
- Analysis of magnetic resonance imaging (MRI) data.
- Correlation of imaging findings with clinical assessments of cognitive and motor function.
- Review of patient data regarding mood disturbances.
Main Results:
- The number of lacunar infarctions and the severity of cerebral atrophy are significant MRI markers for cognitive and motor disabilities.
- Mood disturbances affect 10-20% of patients, often alongside cognitive alterations.
- Ischemic lesions in basal ganglia or frontal white matter may contribute to mood symptoms.
Conclusions:
- MRI markers are crucial for understanding disability progression in CADASIL.
- The precise mechanisms underlying mood disturbances in CADASIL require further investigation.
- Understanding the link between brain lesions and neuropsychiatric symptoms is vital for managing this small-vessel disease.
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