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Electroencephalographic findings in Kufs disease
Lata Vadlamudi1, Barbara F Westmoreland, Donald W Klass
1Section of Electroencephalography, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Summary
Electroencephalography (EEG) can help diagnose Kufs disease, a rare neurodegenerative disorder. EEG patterns vary by Kufs disease phenotype, aiding in diagnosis and understanding the condition.
Area of Science:
- Neurology
- Neurophysiology
- Genetics
Background:
- Kufs disease is an adult-onset, autosomal recessive form of neuronal ceroid-lipofuscinosis.
- The pathophysiology and clinical spectrum of Kufs disease remain incompletely understood.
Purpose of the Study:
- To characterize electroencephalographic (EEG) findings in patients diagnosed with Kufs disease.
- To explore the utility of EEG in differentiating Kufs disease phenotypes.
Main Methods:
- Retrospective review of EEG data from 5 patients with biopsy-proven Kufs disease.
- Systematic literature review of 14 published case reports meeting inclusion criteria.
Main Results:
- Phenotype A Kufs disease showed generalized atypical spike-wave complexes and photoparoxysmal responses.
- Phenotype B Kufs disease exhibited generalized EEG slowing.
- A miscellaneous case presented with focal sharp/spike waves and anteriorly predominant quasi-periodic slow waves.
Conclusions:
- EEG findings are diverse in Kufs disease and can be indicative of specific phenotypes.
- Electroencephalography serves as a valuable tool to support the pathological diagnosis of Kufs disease.