EEG Findings in Patients with CADASIL
Abstract number :
2.145
Submission category :
3. Neurophysiology / 3C. Other Clinical EEG
Year :
2024
Submission ID :
511
Source :
www.aesnet.org
Presentation date :
12/8/2024 12:00:00 AM
Published date :
Authors :
Presenting Author: Victoria Ros-Castelló, MD – Hospital de la Santa Creu i Sant Pau
Ainara Barguilla, MD – Hospital de la Santa Creu i Sant Pau
Paula Villatoro-González, MSc – Hospital de la Santa Creu i Sant Pau
Isabel Sala, PhD – Hospital de la Santa Creu i Sant Pau
Olga Maisterra-Santos, PhD – Hospital Vall d'Hebrón
Israel Fernández-Cadenas, PhD – Hospital de la Santa Creu i Sant Pau
Elena Muiño, MD, PhD – Hospital de la Santa Creu i Sant Pau
Alba Sierra-Marcos, MD, PhD – Epilepsy Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
Rationale: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare small vessel disease due to mutations in NOTCH3. The main clinical manifestations are migraine, psychiatric disorders, recurrent ischemic strokes, and dementia. Moreover, up to 10% of the patients may present with epilepsy. There are no specific treatments or prognostic biomarkers in this disease. We aimed to describe the EEG findings in a cohort of patients with CADASIL to assess potential prognostic variables associated with cognitive decline.
Methods: In this exploratory and transversal study we included patients with the diagnosis of CADASIL (CADAGENIA registry) who underwent a routine EEG (10-20 international system) with an intermittent photic stimulation protocol (1 Hz, 3 Hz, 6 Hz, 9 Hz, 12 Hz, 15 Hz, 18 Hz, 21 Hz, 25 Hz, 30 Hz). Clinical, neuropsychological, and neuroimaging variables were collected.
Results: Seventeen patients were included (59% female, mean age 52±13). Migraine was present in 8/17, mild cognitive decline in 6/13 and moderate cognitive decline in 1/13, ischemic stroke in 5/17, and epilepsy in 3/17. In 11/17 (65%) relevant EEG findings were recorded: 6/17 (35%) had a photic driving response to low frequencies (< 6 Hz) (see Figure 1), 5/17 (29%) had diffuse beta activity, 3/17 (18%) had diffuse or focal slowing, and 1/17 (6%) exhibited interictal epileptiform activity. Neither of these findings was significantly associated with the degree of cognitive decline.
Conclusions: To the best of our knowledge, this is the first study describing the presence of a photic driving response to low frequencies in patients with CADASIL. This finding has been described in patients with dementia, Creutzfeldt-Jakobs disease, or progressive myoclonic epilepsies. Larger studies as well as quantitative neurophysiological studies are needed to demonstrate the significance and prognostic value of this finding in patients with CADASIL.
Funding: NA
Neurophysiology