Electroencephalographic findings in Kufs disease

Lata Vadlamudi, Barbara F. Westmoreland, Donald W. Klass, Joseph E. Parisi

Research output: Contribution to journalArticlepeer-review

10 Scopus citations

Abstract

Objective: To characterize the electroencephalographic (EEG) findings in patients with Kufs disease, the adult autosomal recessive form of neuronal ceroid-lipofuscinosis. Methods: We reviewed the EEG findings in 5 patients with biopsy-proven Kufs disease from our institution and 14 case reports of Kufs disease in the literature. The criteria used for patient inclusion were clinical evidence of a progressive neurodegenerative disorder, biopsy-proven evidence of Kufs disease, and EEG recordings during the course of the illness. Results: One patient had phenotype A with generalized atypical spike and slow wave complexes and marked photoparoxysmal responses, particularly at low flash frequencies. Three patients had phenotype B with generalized slowing. One patient in the miscellaneous category showed focal sharp and spike waves and quasi-periodic slow waves maximal over anterior regions of the head. Review of the literature identified 14 case reports that met the inclusion criteria. Conclusions: The inheritance, mechanism, and manifestations of Kufs disease are not well understood. EEG findings may guide clinicians toward a confirmatory pathological diagnosis and distinguish various phenotypes of this disorder. Significance: The EEG may assist in the diagnosis of Kufs disease.

Original languageEnglish (US)
Pages (from-to)1738-1743
Number of pages6
JournalClinical Neurophysiology
Volume114
Issue number9
DOIs
StatePublished - Sep 1 2003

Keywords

  • Adult neuronal ceroid-lipofuscinosis
  • Electroencephalography
  • Kufs disease
  • Lysosomal storage diseases
  • Progressive myoclonic epilepsy

ASJC Scopus subject areas

  • Sensory Systems
  • Neurology
  • Clinical Neurology
  • Physiology (medical)

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