Unique Characteristics of the Photoparoxysmal Response in Patients with Neuronal Ceroid Lipofuscinosis type 2: Can EEG be a Biomarker?
Abstract number :
1.037
Submission category :
3. Neurophysiology
Year :
2015
Submission ID :
2311100
Source :
www.aesnet.org
Presentation date :
12/5/2015 12:00:00 AM
Published date :
Nov 13, 2015, 12:43 PM
Authors :
Dara V. Albert, Han Yin, Emily De Los Reyes, Jorge Vidaurre
Rationale: Neuronal ceroid lipofuscinosis (NCL) is a heterogeneous group of neurodegenerative disorders which are progressive and fatal. Epilepsy is a core feature of NCL. Often electroencephalograms (EEG) will help identify these patients based on a common feature of a photoparoxysmal response to intermittent photic stimulation. We aim to identify unique features of the photoparoxysmal response seen in patients with NCL as compared to patients with a photoparoxysmal response due to other epilepsy syndromes.Methods: The electronic medical record database was searched for patients with NCL type 2 seen at our institution in the last 10 years. Concordantly, EEGs reported to have a photoparoxysmal response during a single year were reviewed. All EEGs were reviewed by two neurophysiologists (DVA and JV).Results: The search yielded 33 non-NCL EEGs and 35 EEGs from 15 NCL type 2 patients. A photoparoxysmal response was seen in 60% of the patients with NCL type 2. The NCL responses were seen most commonly with low frequency intermittent photic stimulation (76%) which often occurred in a time-locked fashion (63%) and were seen on the patient’s initial EEG (78%). A unique pattern the authors called “sentinel” discharge was identified in 30% of EEGs in patients with NCL. All of the NCL patients had associated sleep abnormalities (100%) and many had waking background abnormalities (84%). This is contrasted to patients without NCL, where the response was most commonly seen during high frequency photic stimulation (91%, p-value <0.0001) and was associated with normal background activity (94%, p-value <0.0001).Conclusions: Photoparoxysmal responses are common in patients with NCL type 2 and have features which are distinguishing from photoparoxysmal responses seen in other epilepsies. In the era of genetic and molecular understanding of NCL, enzyme and gene-targeting therapies are on the horizon. It is now more than ever, critical to identify patients with NCL early in their course when potentially disease-modifying treatments may be feasible.
Neurophysiology