Abstract
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of neurodegenerative diseases, characterized by progressive cerebral atrophy due to lysosomal storage disorder. Common clinical features include epileptic seizures, progressive cognitive and motor decline, and visual failure, which occur over different time courses according to subtypes. During the latest years, many advances have been done in the field of targeted treatments, and in the next future, gene therapies and enzyme replacement treatments may be available for several NCL variants. Considering that there is rapid disease progression in NCLs, an early diagnosis is crucial, and neurophysiological features might have a key role for this purpose. Across the different subtypes of NCLs, electroencephalogram (EEG) is characterized by a progressive deterioration of cerebral activity with slowing of background activity and disappearance of spindles during sleep. Some types of heterogeneous abnormalities, diffuse or focal, prevalent over temporal and occipital regions, are described in many NCL variants. Photoparoxysmal response to low-frequency intermittent photic stimulation (IPS) is a typical EEG finding, mostly described in CLN2, CLN5, and CLN6 diseases. Visual evoked potentials (VEPs) allow to monitor the visual functions, and the lack of response at electroretinogram (ERG) reflects retinal neurodegeneration. Taken together, EEG, VEPs, and ERG may represent essential tools toward an early diagnosis of NCLs.
Highlights
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of autosomal recessive neurodegenerative disorders, characterized by progressive cerebral atrophy due to widespread accumulation of autofluorescent storage material within lysosomes [1,2,3,4,5]
This review aims to provide neurophysiological findings in NCLs, highlighting the neurophysiologic typical features of NCLs as well as what may allow differential diagnosis with developmental and epileptic encephalopathies (DEEs) due to other etiologies
An appropriate definition of neurophysiological features of NCLs is crucial for the possible role that they may have in the early diagnosis of such diseases
Summary
Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of autosomal recessive neurodegenerative disorders, characterized by progressive cerebral atrophy due to widespread accumulation of autofluorescent storage material within lysosomes [1,2,3,4,5]. Neuronal ceroid lipofuscinoses represent the most common cause of dementia in children [5, 8, 11], and the incidence varies worldwide from 1:12,500 to 1:100,000 [9]. Neuronal ceroid lipofuscinoses can be often misdiagnosed at the onset because of the appearance of non-specific presenting symptoms; the diagnosis may be delayed [5]. 14 variants of NCLs are reported; they share some common clinical features including epileptic seizures, progressive cognitive and motor decline, and visual failure; all those symptoms occur over different time courses according to subtypes [9, 10].
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