Neurophysiological Findings in Lipofuscinoses of the Neuronal Ceroid

New NCLs (neuronal ceroid lipofuscinoses) are a diverse group of neurodegenerative illnesses marked by progressive cerebral atrophy caused by a lysosomal storage abnormality. Epileptic seizures, gradual cognitive and motor impairment, and vision loss are common clinical symptoms that occur over varying time periods depending on the subtype. Many improvements have been made in the field of targeted treatments in recent years, and gene therapies and enzyme replacement treatments for numerous NCL variations may be available in the near future. Because NCLs grow quickly, early detection is critical, and neurophysiological aspects may play a vital role in this. Electroencephalogram (EEG) is characterised by aprogressive worsening of brain activity with slowing of background activity and removal of spindles during sleep throughout the different subtypes of NCLs. Many NCL variants describe a variety ofheterogeneous abnormalities, both diffuse and localised, that affect the temporal and occipital areas. A characteristic EEG result is photoparoxysmal response to low-frequency Intermittent Photic Stimulation (IPS), which is usually seen in CLN2, CLN5, and CLN6
disorders. Visual Evoked Potentials (VEPs) are used to track visual functioning, and an Electroretinogram (ERG) with no response indicates retinal neurodegeneration. EEG, VEPs, and ERG may be
useful techniques in the early detection of NCLs when used collectively.